- allele
- alternative form of a gene that occupies a specific locus on a specific gene
- autosomal chromosome
- in humans, the twenty-two pairs of chromosomes that are not the sex chromosomes (XX or XY)
- autosomal dominant
- pattern of dominant inheritance that corresponds to a gene on one of the twenty-two autosomal chromosomes
- autosomal recessive
- pattern of recessive inheritance that corresponds to a gene on one of the twenty-two autosomal chromosomes
- carrier
- heterozygous individual who does not display symptoms of a recessive genetic disorder but can transmit the disorder to their offspring
- chromosomal condition
- condition related to changes in chromosome structure or number
- chromosome
- structure made of protein and a single molecule of DNA that carries genetic information in the form of genes
- codominance
- equal, distinct, and simultaneous expression of both parents’ different alleles
- diagnostic genetic testing
- testing performed to confirm or rule out a specific genetic disorder using a DNA-based test
- dominant lethal inheritance
- inheritance pattern in which individuals with one or two copies of a lethal allele do not survive in utero or have a shortened life span
- empiric risk
- chance for the occurrence of a disease based on personal and family history and other data
- ethical, legal, and social implications (ELSI)
- concerns related to advances in genetic and genomic knowledge that include informed decision-making, informed consent for genetic testing, consent related to genetic/genomic research, privacy and confidentiality, and discrimination prevention
- frameshift mutation
- mutation caused by insertions or deletions of a number of nucleotides that are not a multiple of three
- gene
- basic functional unit of heredity found in the nucleus of every cell; composed of deoxyribonucleic acid (DNA) sequences located in an individual’s chromosomes
- genetic condition
- condition caused by a single gene mutation
- Genetic Information Nondiscrimination Act (GINA)
- U.S. law that prohibits discrimination based on genetic information
- genetic screening
- process that evaluates a person’s risk of developing a genetic condition
- genetic testing
- testing that identifies mutations in a person’s DNA
- genetics
- study of heredity focused on patterns of inheritance of specific characteristics or traits, including variations of a trait within a population
- genome-wide association studies (GWAS)
- expanded area of research to identify common genetic factors that influence health and disease
- genomic condition
- disorder caused by the loss or gain of DNA material
- genomics
- study of genes and how they interact with each other and the environment
- genotype
- complete genetic makeup of an individual
- germline mutation
- mutation that originates in the parent’s reproductive cells (eggs or sperm) and is generally passed into every cell of the offspring’s body
- heterozygous
- having two different alleles for a given gene
- homozygous
- having two identical alleles for a given gene
- induced mutation
- genetic mutation from an extraneous exposure
- karyotype
- systematic arrangement of chromosome pairs
- mitochondrial inheritance
- pattern of inheritance transmitted only by mothers
- mutation
- change in the DNA sequence of an organism’s genetic material
- pharmacogenetics
- study of the variability of therapeutic responses to medications, as influenced by variations in single genes
- pharmacogenomics
- study of variations in multiple genes as associated with variable drug responses
- phenotype
- physical or biochemical manifestation of the genotype; expression of the alleles
- point mutation
- mutation in which a single nucleotide in a DNA sequence is substituted by another nucleotide
- population screening
- large-scale screening programs offering the general population testing for genomic disorders that may be prevented or effectively mitigated with early detection
- recessive lethal inheritance
- pattern of inheritance in which individuals with two copies of a lethal allele do not survive in utero or have a shortened life span
- risk probability
- likelihood that an individual carries a genetic mutation, predisposing the person for developing disease
- sex chromosomes
- pair of chromosomes involved in sex determination; in males, the XY chromosomes, and in females, the XX chromosomes
- somatic mutation
- mutation that arises in cells at some point after fertilization and does not involve the germline
- spontaneous mutation
- genetic mutation that occurs due to processes within the body
- X-linked dominant
- pattern of dominant inheritance that corresponds to a gene on the X chromosome of the twenty-third pair
- X-linked recessive
- pattern of recessive inheritance that corresponds to a gene on the X chromosome of the twenty-third pair
- X-linked transmission
- pattern of inheritance that involves genes located on the X chromosome of the twenty-third pair
- Y-linked inheritance
- pattern of inheritance that comes from one of the Y chromosomes of the father