Alternative form of a gene or DNA sequence. Variations in clinical traits and phenotypes are allelic if they arise from the same gene sequence or locus and nonallelic if they arise from different gene sequences of different loci.
Use of different exons in formation of mRNA from initially identical transcripts. This results in the generation of related proteins from one gene, often in a tissue or developmental stage–specific manner.
An antibody is a protein component of the immune system that circulates in the blood, recognizes foreign substances like bacteria and viruses, and neutralizes them. After exposure to a foreign substance, called an antigen, antibodies continue to circulate in the blood, providing protection against future exposures to that antigen.
Autosomal dominance is a pattern of inheritance characteristic of some genetic diseases. "Autosomal" means that the gene in question is located on one of the numbered, or non-sex, chromosomes. "Dominant" means that a single copy of the disease-associated mutation is enough to cause the disease. This is in contrast to a recessive disorder, where two copies of the mutation are needed to cause the disease. Huntington's disease is a common example of an autosomal dominant genetic disorder.
Bacteria are small single-celled organisms. Bacteria are found almost everywhere on Earth and are vital to the planet's ecosystems. Some species can live under extreme conditions of temperature and pressure. The human body is full of bacteria, and in fact is estimated to contain more bacterial cells than human cells. Most bacteria in the body are harmless, and some are even helpful. A relatively small number of species cause disease.
A base pair is two chemical bases bonded to one another forming a "rung of the DNA ladder." The DNA molecule consists of two strands that wind around each other like a twisted ladder. Each strand has a backbone made of alternating sugar (deoxyribose) and phosphate groups. Attached to each sugar is one of four bases--adenine (A), cytosine (C), guanine (G), or thymine (T). The two strands are held together by hydrogen bonds between the bases, with adenine forming a base pair with thymine, and cytosine forming a base pair with guanine.
Bioinformatics is a sub-discipline of biology and computer science concerned with the acquisition, storage, analysis, and dissemination of biological data, most often DNA and amino acid sequences. Bioinformatics uses computer programs for a variety of applications, including determining gene and protein functions, establishing evolutionary relationships, and predicting the three-dimensional shapes of proteins.
A birth defect is an abnormality present at birth. Also called a congenital defect, it can be caused by a genetic mutation, an unfavorable environment during pregnancy, or a combination of both. The effect of a birth defect can be mild, severe, or incompatible with life.
BRCA1 and BRCA2 are the first two genes found to be associated with inherited forms of breast cancer. Both genes normally act as tumor suppressors, meaning that they help regulate cell division. When these genes are rendered inactive due to mutation, uncontrolled cell growth results, leading to breast cancer. Women with mutations in either gene have a much higher risk for developing breast cancer than women without mutations in the genes.
A carrier is an individual who carries and is capable of passing on a genetic mutation associated with a disease and may or may not display disease symptoms. Carriers are associated with diseases inherited as recessive traits. In order to have the disease, an individual must have inherited mutated alleles from both parents. An individual having one normal allele and one mutated allele does not have the disease. Two carriers may produce children with the disease.
Carrier screening is a type of genetic testing performed on people who display no symptoms for a genetic disorder but may be at risk for passing it on to their children. A carrier for a genetic disorder has inherited one normal and one abnormal allele for a gene associated with the disorder. A child must inherit two abnormal alleles in order for symptoms to appear. Prospective parents with a family history of a genetic disorders are candidates for carrier screening.
A cell is the basic building block of living things. All cells can be sorted into one of two groups: eukaryotes and prokaryotes. A eukaryote has a nucleus and membrane-bound organelles, while a prokaryote does not. Plants and animals are made of numerous eukaryotic cells, while many microbes, such as bacteria, consist of single cells. An adult human body is estimated to contain between 10 and 100 trillion cells.
A chromosome is an organized package of DNA found in the nucleus of the cell. Different organisms have different numbers of chromosomes. Humans have 23 pairs of chromosomes--22 pairs of numbered chromosomes, called autosomes, and one pair of sex chromosomes, X and Y. Each parent contributes one chromosome to each pair so that offspring get half of their chromosomes from their mother and half from their father.
Cloning is the process of making identical copies of an organism, cell, or DNA sequence. Molecular cloning is a process by which scientists amplify a desired DNA sequence. The target sequence is isolated, inserted into another DNA molecule (known as a vector), and introduced into a suitable host cell. Then, each time the host cell divides, it replicates the foreign DNA sequence along with its own DNA. Cloning also can refer to asexual reproduction.
Codominance is a relationship between two versions of a gene. Individuals receive one version of a gene, called an allele, from each parent. If the alleles are different, the dominant allele usually will be expressed, while the effect of the other allele, called recessive, is masked. In codominance, however, neither allele is recessive and the phenotypes of both alleles are expressed.
A complex disease is caused by the interaction of multiple genes and environmental factors. Complex diseases are also called multifactorial. Examples of complex diseases include cancer and heart disease.
Congenital conditions are those present from birth. Birth defects are described as being congenital. They can be caused by a genetic mutation, an unfavorable environment in the uterus, or a combination of both factors.
Copy Number Variation
A copy number variation (CNV) is when the number of copies of a particular gene varies from one individual to the next. Following the completion of the Human Genome Project, it became apparent that the genome experiences gains and losses of genetic material. The extent to which copy number variation contributes to human disease is not yet known. It has long been recognized that some cancers are associated with elevated copy numbers of particular genes.
Cytosine (C) is one of four chemical bases in DNA, the other three being adenine (A), guanine (G), and thymine (T). Within the DNA molecule, cytosine bases located on one strand form chemical bonds with guanine bases on the opposite strand. The sequence of four DNA bases encodes the cell's genetic instructions.
Deletion is a type of mutation involving the loss of genetic material. It can be small, involving a single missing DNA base pair, or large, involving a piece of a chromosome.
DNA is the chemical name for the molecule that carries genetic instructions in all living things. The DNA molecule consists of two strands that wind around one another to form a shape known as a double helix. Each strand has a backbone made of alternating sugar (deoxyribose) and phosphate groups. Attached to each sugar is one of four bases--adenine (A), cytosine (C), guanine (G), and thymine (T). The two strands are held together by bonds between the bases; adenine bonds with thymine, and cytosine bonds with guanine. The sequence of the bases along the backbones serves as instructions for assembling protein and RNA molecules.
DNA replication is the process by which a molecule of DNA is duplicated. When a cell divides, it must first duplicate its genome so that each daughter cell winds up with a complete set of chromosomes.
DNA sequencing is a laboratory technique used to determine the exact sequence of bases (A, C, G, and T) in a DNA molecule. The DNA base sequence carries the information a cell needs to assemble protein and RNA molecules. DNA sequence information is important to scientists investigating the functions of genes. The technology of DNA sequencing was made faster and less expensive as a part of the Human Genome Project.
Dominant refers to the relationship between two versions of a gene. Individuals receive two versions of each gene, known as alleles, from each parent. If the alleles of a gene are different, one allele will be expressed; it is the dominant gene. The effect of the other allele, called recessive, is masked.
Double helix is the description of the structure of a DNA molecule. A DNA molecule consists of two strands that wind around each other like a twisted ladder. Each strand has a backbone made of alternating groups of sugar (deoxyribose) and phosphate groups. Attached to each sugar is one of four bases: adenine (A), cytosine (C), guanine (G), or thymine (T). The two strands are held together by bonds between the bases, adenine forming a base pair with thymine, and cytosine forming a base pair with guanine.
Duplication is a type of mutation that involves the production of one or more copies of a gene or region of a chromosome. Gene and chromosome duplications occur in all organisms, though they are especially prominent among plants. Gene duplication is an important mechanism by which evolution occurs.
An enzyme is a biological catalyst and is almost always a protein. It speeds up the rate of a specific chemical reaction in the cell. The enzyme is not destroyed during the reaction and is used over and over. A cell contains thousands of different types of enzyme molecules, each specific to a particular chemical reaction.
Epigenetics is an emerging field of science that studies heritable changes caused by the activation and deactivation of genes without any change in the underlying DNA sequence of the organism. The word epigenetics is of Greek origin and literally means over and above (epi) the genome.
The term epigenome is derived from the Greek word epi which literally means "above" the genome. The epigenome consists of chemical compounds that modify, or mark, the genome in a way that tells it what to do, where to do it, and when to do it. Different cells have different epigenetic marks. These epigenetic marks, which are not part of the DNA itself, can be passed on from cell to cell as cells divide, and from one generation to the next.
Epistasis is a circumstance where the expression of one gene is affected by the expression of one or more independently inherited genes. For example, if the expression of gene #2 depends on the expression of gene #1, but gene #1 becomes inactive, then the expression of gene #2 will not occur. In this example, gene #1 is said to be epistatic to gene #2.
Evolution is the process by which organisms change over time. Mutations produce genetic variation in populations, and the environment interacts with this variation to select those individuals best adapted to their surroundings. The best-adapted individuals leave behind more offspring than less well-adapted individuals. Given enough time, one species may evolve into many others.
An exon is the portion of a gene that codes for amino acids. In the cells of plants and animals, most gene sequences are broken up by one or more DNA sequences called introns. The parts of the gene sequence that are expressed in the protein are called exons, because they are expressed, while the parts of the gene sequence that are not expressed in the protein are called introns, because they come in between--or interfere with--the exons.
A family history is a record of medical information about an individual and their biological family. Human genetic data is becoming more prevalent and easy to obtain. Increasingly, this data is being used to identify individuals who are at increased risk for developing genetic disorders that run in families.
A first-degree relative is a family member who shares about 50 percent of their genes with a particular individual in a family. First degree relatives include parents, offspring, and siblings.
Fluorescence In Situ Hybridization (FISH)
Fluorescence in situ hybridization (FISH) is a laboratory technique for detecting and locating a specific DNA sequence on a chromosome. The technique relies on exposing chromosomes to a small DNA sequence called a probe that has a fluorescent molecule attached to it. The probe sequence binds to its corresponding sequence on the chromosome.
The founder effect is the reduction in genetic variation that results when a small subset of a large population is used to establish a new colony. The new population may be very different from the original population, both in terms of its genotypes and phenotypes. In some cases, the founder effect plays a role in the emergence of new species.
Fragile X Syndrome
Fragile X syndrome is a hereditary disorder affecting mostly males. Symptoms include mental retardation, distinctive facial features, and poor muscle tone. The syndrome is caused by mutations in a gene on the X chromosome. Since males have a single copy of the X chromosome, they show symptoms if gene on their X chromosome is mutated. Females have a second, usually normal, copy of the gene on their other X chromosome. Consequently, they are less likely to show symptoms of the syndrome.
A frameshift mutation is a type of mutation involving the insertion or deletion of a nucleotide in which the number of deleted base pairs is not divisible by three. "Divisible by three" is important because the cell reads a gene in groups of three bases. Each group of three bases corresponds to one of 20 different amino acids used to build a protein. If a mutation disrupts this reading frame, then the entire DNA sequence following the mutation will be read incorrectly.
Fraternal twins are also dizygotic twins. They result from the fertilization of two separate eggs during the same pregnancy. Fraternal twins may be of the same or different sexes. They share half of their genes just like any other siblings. In contrast, twins that result from the fertilization of a single egg that then splits in two are called monozygotic, or identical, twins. Identical twins share all of their genes and are always the same sex.
The gene is the basic physical unit of inheritance. Genes are passed from parents to offspring and contain the information needed to specify traits. Genes are arranged, one after another, on structures called chromosomes. A chromosome contains a single, long DNA molecule, only a portion of which corresponds to a single gene. Humans have approximately 20,000 genes arranged on their chromosomes.
The instructions in a gene that tell the cell how to make a specific protein. A, C, G, and T are the "letters" of the DNA code; they stand for the chemicals adenine (A), cytosine (C), guanine (G), and thymine (T), respectively, that make up the nucleotide bases of DNA. Each gene's code combines the four chemicals in various ways to spell out three-letter "words" that specify which amino acid is needed at every step in making a protein.
Genetic counseling is the professional interaction between a healthcare provider with specialized knowledge of genetics and an individual or family. The genetic counselor determines whether a condition in the family may be genetic and estimates the chances that another relative may be affected. Genetic counselors also offer and interpret genetic tests that may help to estimate risk of disease. The genetic counselor conveys information in an effort to address concerns of the client and provides psychological counseling to help families adapt to their condition or risk.
Genetic discrimination is prejudice directed against people who have or may have a genetic disease. Genetic discrimination can involve being denied employment or health insurance. In a healthcare context, it can refer to people being treated based on their genetic status rather than some more relevant criterion.
Genetic Information Nondiscrimination Act (GINA)
The Genetic Information Nondiscrimination Act (GINA) is federal legislation that makes it unlawful to discriminate against individuals on the basis of their genetic profiles in regard to health insurance and employment. These protections are intended to encourage Americans to take advantage of genetic testing as part of their medical care. President George W. Bush signed GINA into law on May 22, 2008.
A genetic marker is a DNA sequence with a known physical location on a chromosome. Genetic markers can help link an inherited disease with the responsible gene. DNA segments close to each other on a chromosome tend to be inherited together. Genetic markers are used to track the inheritance of a nearby gene that has not yet been identified, but whose approximate location is known. The genetic marker itself may be a part of a gene or may have no known function.
Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease. The results of a genetic test can be used to confirm or rule out a suspected genetic disease or to determine the likelihood of a person passing on a mutation to their offspring. Genetic testing may be performed prenatally or after birth. Ideally, a person who undergoes a genetic test will discuss the meaning of the test and its results with a genetic counselor.
The genome is the entire set of genetic instructions found in a cell. In humans, the genome consists of 23 pairs of chromosomes, found in the nucleus, as well as a small chromosome found in the cells' mitochondria. Each set of 23 chromosomes contains approximately 3.1 billion bases of DNA sequence.
A haplotype is a set of DNA variations, or polymorphisms, that tend to be inherited together. A haplotype can refer to a combination of alleles or to a set of single nucleotide polymorphisms (SNPs) found on the same chromosome. Information about haplotypes is being collected by the International HapMap Project and is used to investigate the influence of genes on disease.
HapMap (short for "haplotype map") is the nickname of the International HapMap Project, an international project that seeks to relate variations in human DNA sequences with genes associated with health. A haplotype is a set of DNA variations, or polymorphisms, that tend to be inherited together. A haplotype can refer to a combination of alleles or to a set of single nucleotide polymorphisms (SNPs) found on the same chromosome. The HapMap describes common patterns of genetic variation among people.
Heterozygous refers to having inherited different forms of a particular gene from each parent. A heterozygous genotype stands in contrast to a homozygous genotype, where an individual inherits identical forms of a particular gene from each parent.
Human Genome Project
The Human Genome Project was an international project that mapped and sequenced the entire human genome. Completed in April 2003, data from the project are freely available to researchers and others interested in genetics and human health.
Identical twins are also known as monozygotic twins. They result from the fertilization of a single egg that splits in two. Identical twins share all of their genes and are always of the same sex. In contrast, fraternal, or dizygotic, twins result from the fertilization of two separate eggs during the same pregnancy. They share half of their genes, just like any other siblings. Fraternal twins can be of the same or different sexes.
In Situ Hybridization
In situ hybridization is a laboratory technique in which a single-stranded DNA or RNA sequence called a probe is allowed to form complementary base pairs with DNA or RNA present in a tissue or chromosome sample. The probe has a chemical or radioactive label attached to it so that its binding can be observed.
An inherited trait is one that is genetically determined. Inherited traits are passed from parent to offspring according to the rules of Mendelian genetics. Most traits are not strictly determined by genes, but rather are influenced by both genes and environment.
Insertion is a type of mutation involving the addition of genetic material. An insertion mutation can be small, involving a single extra DNA base pair, or large, involving a piece of a chromosome.
Linkage is the close association of genes or other DNA sequences on the same chromosome. The closer two genes are to each other on the chromosome, the greater the probability that they will be inherited together.
A locus is the specific physical location of a gene or other DNA sequence on a chromosome, like a genetic street address. The plural of locus is "loci".
LOD stands for "logarithm of the odds." In genetics, the LOD score is a statistical estimate of whether two genes, or a gene and a disease gene, are likely to be located near each other on a chromosome and are therefore likely to be inherited. A LOD score of 3 or higher is generally understood to mean that two genes are located close to each other on the chromosome. In terms of significance, a LOD score of 3 means the odds are a thousand to one that the two genes are linked, and therefore inherited together.
Mapping is the process of making a representative diagram cataloging the genes and other features of a chromosome and showing their relative locations. Cytogenetic maps are made using photomicrographs of chromosomes stained to reveal structural variations. Genetic maps use the idea of linkage to estimate the relative locations of genes. Physical maps, made using recombinant DNA (rDNA) technology, show the actual physical locations of landmarks along a chromosome.
A marker is a DNA sequence with a known physical location on a chromosome. Markers can help link an inherited disease with the responsible genes. DNA segments close to each other on a chromosome tend to be inherited together. Markers are used to track the inheritance of a nearby gene that has not yet been identified but whose approximate location is known. The marker itself may be a part of a gene or may have no known function.
Messenger RNA (mRNA) is a single-stranded RNA molecule that is complementary to one of the DNA strands of a gene. The mRNA is an RNA version of the gene that leaves the cell nucleus and moves to the cytoplasm where proteins are made. During protein synthesis, an organelle called a ribosome moves along the mRNA, reads its base sequence, and uses the genetic code to translate each three-base triplet, or codon, into its corresponding amino acid.
A microbiome is all of the genetic material found within an individual microbe such as a bacterium, fungal cell, or virus. It also may refer to the collection of genetic material found in a community of microbes that live together.
Mitochondria are membrane-bound cell organelles (mitochondrion, singular) that generate most of the chemical energy needed to power the cell's biochemical reactions. Chemical energy produced by the mitochondria is stored in a small molecule called adenosine triphosphate (ATP). Mitochondria contain their own small chromosomes. Generally, mitochondria, and therefore mitochondrial DNA, are inherited only from the mother.
A mutation is a change in a DNA sequence. Mutations can result from DNA copying mistakes made during cell division, exposure to ionizing radiation, exposure to chemicals called mutagens, or infection by viruses. Germ line mutations occur in the eggs and sperm and can be passed on to offspring, while somatic mutations occur in body cells and are not passed on.
Newborn screening is testing performed on newborn babies to detect a wide variety of disorders. Typically, testing is performed on a blood sample obtained from a heel prick when the baby is two or three days old. In the United States, newborn screening is mandatory for several different genetic disorders, though the exact set of required tests differs from state to state.
Non-coding DNA sequences do not code for amino acids. Most non-coding DNA lies between genes on the chromosome and has no known function. Other non-coding DNA, called introns, is found within genes. Some non-coding DNA plays a role in the regulation of gene expression.
A nonsense mutation is the substitution of a single base pair that leads to the appearance of a stop codon where previously there was a codon specifying an amino acid. The presence of this premature stop codon results in the production of a shortened, and likely nonfunctional, protein.
Nucleic acid is an important class of macromolecules found in all cells and viruses. The functions of nucleic acids have to do with the storage and expression of genetic information. Deoxyribonucleic acid (DNA) encodes the information the cell needs to make proteins. A related type of nucleic acid, called ribonucleic acid (RNA), comes in different molecular forms that participate in protein synthesis.
A nucleus is a membrane-bound organelle that contains the cell's chromosomes. Pores in the nuclear membrane allow for the passage of molecules in and out of the nucleus.
An oncogene is a mutated gene that contributes to the development of a cancer. In their normal, unmutated state, onocgenes are called proto-oncogenes, and they play roles in the regulation of cell division. Some oncogenes work like putting your foot down on the accelerator of a car, pushing a cell to divide. Other oncogenes work like removing your foot from the brake while parked on a hill, also causing the cell to divide.
In biology, an organ (from the Latin "organum" meaning an instrument or tool) is a collection of tissues that structurally form a functional unit specialized to perform a particular function. Your heart, kidneys, and lungs are examples of organs.
An organelle is a subcellular structure that has one or more specific jobs to perform in the cell, much like an organ does in the body. Among the more important cell organelles are the nuclei, which store genetic information; mitochondria, which produce chemical energy; and ribosomes, which assemble proteins.
A pedigree is a genetic representation of a family tree that diagrams the inheritance of a trait or disease though several generations. The pedigree shows the relationships between family members and indicates which individuals express or silently carry the trait in question.
A peptide is one or more amino acids linked by chemical bonds. The term also refers to the type of chemical bond that joins the amino acids together. A series of linked amino acids is a polypeptide. The cell's proteins are made from one or more polypeptides.
Personalized medicine is an emerging practice of medicine that uses an individual's genetic profile to guide decisions made in regard to the prevention, diagnosis, and treatment of disease. Knowledge of a patient's genetic profile can help doctors select the proper medication or therapy and administer it using the proper dose or regimen. Personalized medicine is being advanced through data from the Human Genome Project.
Pharmacogenomics is a branch of pharmacology concerned with using DNA and amino acid sequence data to inform drug development and testing. An important application of pharmacogenomics is correlating individual genetic variation with drug responses.
A phenotype is an individual's observable traits, such as height, eye color, and blood type. The genetic contribution to the phenotype is called the genotype. Some traits are largely determined by the genotype, while other traits are largely determined by environmental factors.
A polygenic trait is one whose phenotype is influenced by more than one gene. Traits that display a continuous distribution, such as height or skin color, are polygenic. The inheritance of polygenic traits does not show the phenotypic ratios characteristic of Mendelian inheritance, though each of the genes contributing to the trait is inherited as described by Gregor Mendel. Many polygenic traits are also influenced by the environment and are called multifactorial.
Polymorphism involves one of two or more variants of a particular DNA sequence. The most common type of polymorphism involves variation at a single base pair. Polymorphisms can also be much larger in size and involve long stretches of DNA. Called a single nucleotide polymorphism, or SNP (pronounced snip), scientists are studying how SNPs in the human genome correlate with disease, drug response, and other phenotypes.
Population genomics is the application of genomic technologies to understand populations of organisms. In humans, population genomics typically refers to applying technology in the quest to understand how genes contribute to our health and well-being.
Proteins are an important class of molecules found in all living cells. A protein is composed of one or more long chains of amino acids, the sequence of which corresponds to the DNA sequence of the gene that encodes it. Proteins play a variety of roles in the cell, including structural (cytoskeleton), mechanical (muscle), biochemical (enzymes), and cell signaling (hormones). Proteins are also an essential part of diet.
Race is a fluid concept used to group people according to various factors including, ancestral background and social identity. Race is also used to group people that share a set of visible characteristics, such as skin color and facial features. Though these visible traits are influenced by genes, the vast majority of genetic variation exists within racial groups and not between them. Race is an ideology and for this reason, many scientists believe that race should be more accurately described as a social construct and not a biological one.
Recessive is a quality found in the relationship between two versions of a gene. Individuals receive one version of a gene, called an allele, from each parent. If the alleles are different, the dominant allele will be expressed, while the effect of the other allele, called recessive, is masked. In the case of a recessive genetic disorder, an individual must inherit two copies of the mutated allele in order for the disease to be present.
A repressor is a protein that turns off the expression of one or more genes. The repressor protein works by binding to the gene's promoter region, preventing the production of messenger RNA (mRNA).
A retrovirus is a virus that uses RNA as its genetic material. When a retrovirus infects a cell, it makes a DNA copy of its genome that is inserted into the DNA of the host cell. There are a variety of different retroviruses that cause human diseases such as some forms of cancer and AIDS.
Ribonucleic acid (RNA) is a molecule similar to DNA. Unlike DNA, RNA is single-stranded. An RNA strand has a backbone made of alternating sugar (ribose) and phosphate groups. Attached to each sugar is one of four bases--adenine (A), uracil (U), cytosine (C), or guanine (G). Different types of RNA exist in the cell: messenger RNA (mRNA), ribosomal RNA (rRNA), and transfer RNA (tRNA). More recently, some small RNAs have been found to be involved in regulating gene expression.
A ribosome is a cellular particle made of RNA and protein that serves as the site for protein synthesis in the cell. The ribosome reads the sequence of the messenger RNA (mRNA) and, using the genetic code, translates the sequence of RNA bases into a sequence of amino acids.
Risk, in the context of genetics, refers to the probability that an individual will be affected by a particular genetic disorder. Both genes and environment influence risk. An individual's risk may be higher because they inherit genes that cause or increase susceptibility to a disorder. Other individuals may be at higher risk because they live or work in an environment that promotes the development of the disorder.
A sex chromosome is a type of chromosome that participates in sex determination. Humans and most other mammals have two sex chromosomes, the X and the Y. Females have two X chromosomes in their cells, while males have both X and a Y chromosomes in their cells. Egg cells all contain an X chromosome, while sperm cells contain an X or Y chromosome. This arrangement means that it is the male that determines the sex of the offspring when fertilization occurs.
Sex linked is a trait in which a gene is located on a sex chromosome. In humans, the term generally refers to traits that are influenced by genes on the X chromosome. This is because the X chromosome is large and contains many more genes than the smaller Y chromosome. In a sex-linked disease, it is usually males who are affected because they have a single copy of X chromosome that carries the mutation. In females, the effect of the mutation may be masked by the second healthy copy of the X chromosome.
Single Nucleotide Polymorphisms (SNPs)
Single nucleotide polymorphisms (SNPs) are a type of polymorphism involving variation of a single base pair. Scientists are studying how single nucleotide polymorphisms, or SNPs (pronounced "snips"), in the human genome correlate with disease, drug response, and other phenotypes.
A somatic cell is any cell of the body except sperm and egg cells. Somatic cells are diploid, meaning that they contain two sets of chromosomes, one inherited from each parent. Mutations in somatic cells can affect the individual, but they are not passed on to offspring.
A stem cell is a cell with the potential to form many of the different cell types found in the body. When stem cells divide, they can form more stem cells or other cells that perform specialized functions. Embryonic stem cells have the potential to form a complete individual, whereas adult stem cells can only form certain types of specialized cells. Stem cells continue to divide as long as the individual remains alive.
Substitution is a type of mutation where one base pair is replaced by a different base pair. The term also refers to the replacement of one amino acid in a protein with a different amino acid.
Susceptibility is a condition of the body that increases the likelihood that the individual will develop a particular disease. Susceptibility is influenced by a combination of genetic and environmental factors.
A syndrome is a collection of recognizable traits or abnormalities that tend to occur together and are associated with a specific disease.
Thymine (T) is one of four chemical bases in DNA, the other three being adenine (A), cytosine (C), and guanine (G). Within the DNA molecule, thymine bases located on one strand form chemical bonds with adenine bases on the opposite strand. The sequence of four DNA bases encodes the cell's genetic instructions.
A trait is a specific characteristic of an organism. Traits can be determined by genes or the environment, or more commonly by interactions between them. The genetic contribution to a trait is called the genotype. The outward expression of the genotype is called the phenotype.
Transcription is the process of making an RNA copy of a gene sequence. This copy, called a messenger RNA (mRNA) molecule, leaves the cell nucleus and enters the cytoplasm, where it directs the synthesis of the protein, which it encodes.
Transfer RNA (tRNA)
Transfer RNA (tRNA) is a small RNA molecule that participates in protein synthesis. Each tRNA molecule has two important areas: a trinucleotide region called the anticodon and a region for attaching a specific amino acid. During translation, each time an amino acid is added to the growing chain, a tRNA molecule forms base pairs with its complementary sequence on the messenger RNA (mRNA) molecule, ensuring that the appropriate amino acid is inserted into the protein.
Transgenic means that one or more DNA sequences from another species have been introduced by artificial means. Animals usually are made transgenic by having a small sequence of foreign DNA injected into a fertilized egg or developing embryo. Transgenic plants can be made by introducing foreign DNA into a variety of different tissues.
Translation is the process of translating the sequence of a messenger RNA (mRNA) molecule to a sequence of amino acids during protein synthesis. The genetic code describes the relationship between the sequence of base pairs in a gene and the corresponding amino acid sequence that it encodes. In the cell cytoplasm, the ribosome reads the sequence of the mRNA in groups of three bases to assemble the protein.
Translocation is a type of chromosomal abnormality in which a chromosome breaks and a portion of it reattaches to a different chromosome. Chromosomal translocations can be detected by analyzing karyotypes of the affected cells.
Tumor Suppressor Gene
A tumor suppressor gene directs the production of a protein that is part of the system that regulates cell division. The tumor suppressor protein plays a role in keeping cell division in check. When mutated, a tumor suppressor gene is unable to do its job, and as a result uncontrolled cell growth may occur. This may contribute to the development of a cancer.
A vacuole is a membrane-bound cell organelle. In animal cells, vacuoles are generally small and help sequester waste products. In plant cells, vacuoles help maintain water balance. Sometimes a single vacuole can take up most of the interior space of the plant cell.
Variant can be used to describe an alteration that may be benign, pathogenic, or of unknown significance.
A virus is a small collection of genetic code, either DNA or RNA, surrounded by a protein coat. A virus cannot replicate alone. Viruses must infect cells and use components of the host cell to make copies of themselves. Often, they kill the host cell in the process, and cause damage to the host organism. Viruses have been found everywhere on Earth. Researchers estimate that viruses outnumber bacteria by 10 to 1. Because viruses don’t have the same components as bacteria, they cannot be killed by antibiotics; only antiviral medications or vaccines can eliminate or reduce the severity of viral diseases, including AIDS, COVID-19, measles and smallpox.
The X chromosome is one of two sex chromosomes. Humans and most mammals have two sex chromosomes, the X and Y. Females have two X chromosomes in their cells, while males have X and Y chromosomes in their cells. Egg cells all contain an X chromosome, while sperm cells contain an X or a Y chromosome. This arrangement means that during fertilization, it is the male that determines the sex of the offspring.
X-linked is a trait where a gene is located on the X chromosome. Humans and other mammals have two sex chromosomes, the X and the Y. In an X-linked or sex linked disease, it is usually males that are affected because they have a single copy of the X chromosome that carries the mutation. In females, the effect of the mutation may be masked by the second healthy copy of the X chromosome.