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- Gene: The basic unit of heredity, consisting of a segment of DNA arranged in a linear manner along a chromosome. A gene codes for a specific protein or segment of protein leading to a particular characteristic or function.
- Gene Product: Genes are transcribed into segments of RNA (ribonucleic acid), which are translated into proteins. Both RNA and proteins are products of the expression of the gene.
- Genetic Counseling: A process, involving an individual or family, comprising: evaluation to confirm, diagnose, or exclude a genetic condition, malformation syndrome, or isolated birth defect; discussion of natural history and the role of heredity; identification of medical management issues; calculation and communication of genetic risks; provision of or referral for psychosocial support.
- Genetic Locus: A specific site on a chromosome.
- Genome: The complete DNA sequence, containing all genetic information and supporting proteins, in the chromosomes of an individual or species.
- Genotype: The genetic constitution of an organism or cell; also refers to the specific set of alleles inherited at a locus.
- Genotype-Phenotype Correlation: The association between the presence of a certain mutation or mutations (genotype) and the resulting pattern of abnormalities (phenotype).