Genetic and Medical Glossary

Glossary

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There are 35 names in this directory beginning with the letter G.
G
the abbreviation for guanine, a purine nitrogenous base found in the structure of both DNA and RNA

G-banding
series of dark and light stripes across a chromosome which are produced by treating (staining) the chromosomes with different chemicals in a laboratory

Gain-of-function
mutations that change the gene product such that it gains a new and abnormal function and usually have dominant phenotypes

Gardner syndrome
disorder is characterized by adenomatous polyposis, an association of numerous polyps of the colon with soft tissue tumors, mostly in the brain and thyroid; also present are osteomas, causing susceptibility to colon cancer; congenital hypertrophy of the retinal pigment epithelium, jaw and/or sebaceous cysts

Gastro–esophageal reflux (GERD)
condition in which the stomach contents leak backwards from the stomach into the esophagus (the tube from the mouth to the stomach)

Gene
a portion of a DNA molecule containing the genetic information necessary to produce a molecule of messenger RNA (via transcription) that can then be used to produce a protein (via translation)

Gene expression
the combined biochemical processes (transcription and translation) that convert the linearly encoded information in the bases of DNA into the three-dimensional structures of proteins

Gene families
multiple copies of the same or similar genes in the same genome; copies can be identical and tandemly repeated, or may differ slightly and be scattered on the same or different chromosomes

Gene mapping
determining the relative locations of different genes on chromosomes

Gene pool
the complete assortment of genes present in the gametes of the members of a population that are eligible to reproduce

Gene silencing
any form of genetic regulation in which the expression of a gene is completely repressed, either by preventing transcription or after a messenger RNA (mRNA) has been transcribed

Gene therapy
any procedure that genetically alters the cells of the person to alleviate or treat the symptoms of a disease or condition

Genetic code
information contained in the DNA which is ‘interpreted’ by the cells to produce proteins; nucleotides which make up DNA are described by the letters A (adenine), T (thymine), C (cytosine) and G (guanine); written in a series of these letters in triplicate

Genetic counseling
a discipline concerned with analyzing the inheritance patterns of a particular genetic defect within a given family, including the determination of the risk associated with the presence of a genetic defect in future generations and options for treatment of the existing genetic defect

Genetic screening
the testing of individuals for disease-causing genes or genetic disease

Genetic testing
the use of techniques of genetics research to determine a person’s risk of developing, or status as a carrier of, a disease or other disorder

Genetics
a branch of biology involving the study of heredity

Genome
complete set of genes carried by an individual or all the DNA in the cell or in one of the organelles (eg, mitochondrion)

Genomic imprinting
a genetic phenomenon in which the phenotype associated with a particular allele depends on which parent donated the allele

Genomics
branch of genetics dealing with the study of genetic sequences, including their structure and arrangement

Genotype
the genetic characteristics of a cell or organism, expressed as a set of symbols representing the alleles present at one or more loci (sites)

Genotype-phenotype
phenotype is the constellation of observable traits; genotype is the genetic endowment of the individual. Genotype is the set of genes responsible for a particular trait, phenotype is the physical expression of that trait

Germline mosaicism
when germ cells (sperm or egg cells) have a different genetic makeup from cells in the rest of the body

Germline mutation
heritable change in the genes of an individual’s reproductive cells, often linked to hereditary diseases

Glabella
smooth part of the forehead above and between the eyebrows

Glaucoma
condition of increased pressure within the eyeball, causing gradual loss of sight

Glomerular fibrosis
formation of fibrous tissue in the renal glomerulus as a result of repair or a reactive process

Glossoptosis
posterior displacement of the tongue into the pharynx

Goldenhar syndrome
disorder characterized by hemifacial microsomia (hypoplasia of one side of the face), epibulbar dermoid (benign tumors over the cornea and sclera), and absence or severe hypoplasia of one ear

Gonadal dysgenesis
congenital developmental disorder of the reproductive organs

Gonadogenesis
generation and development of the gonads (organ that produces testes or ovaries)

Gorlin syndrome
autosomal dominant genetic disorder characterized by a broad face, rib malformations, and high susceptibility to basal cell carcinoma, a type of skin cancer

Greig cephalopolysyndactyly syndrome
genetic disorder characterized by physical abnormalities affecting the fingers and toes and the head and facial (craniofacial) area; extra (supernumerary) fingers and/or toes (polydactyly), webbing and/or fusion of the fingers and/or toes (syndactyly) may be present; craniofacial malformations may include a large and/or unusually shaped skull, high, prominent forehead (frontal bossing), abnormally broad nasal bridge, and widely spaced eyes (ocular hypertelorism)

Guanine (G)
a purine nitrogenous base found in the structure of both DNA and RNA

Gyri
convolutions on the surface of a cerebral hemisphere produced by the infolding of the cerebral cortex

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