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Carrier
Person who is heterozygous; possessing two different alleles of a gene pair
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Chromosome
Microscopic structures in the cell nucleus that contain genetic information and are constant in number in a species
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Deoxyribonucleic Acid (DNA)
The primary genetic material in humans consisting of nitrogenous bases, a sugar group, and phosphate combined into a double helix
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Dominant
A genetic trait that is normally expressed when a person has a gene mutation on one of a pair of chromosomes and the normal form of the gene is on the other chromosome
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Genetics
The scientific study of heredity; how specific traits or predispositions are transmitted from parents to offspring
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Genome
The total genetic complement of an individual genotype
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Genomics
The study of the human genome, including gene sequencing, mapping, and function
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Genotype
The genes and the variations therein that a person inherits from his or her parents
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Human Genome Project
An international research effort aimed at identifying and characterizing the order of every base in the human genome
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Mutation
A heritable alteration in the genetic material
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Nondisjunction
The failure of a chromosome pair to separate appropriately during meiosis, resulting in abnormal chromosome numbers in reproductive cells (gamates)
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Pedigree
A diagrammatic representation of a family history
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Phenotype
A person’s entire physical, biochemical, and physiologic makeup, as determined by the person’s genotype and environmental factors
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Predisposition Testing
Testing that is used to determine the likelihood that a healthy person with or without a family history of a condition will develop a disorder
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Prenatal Screening
Testing that is used to identify whether a fetus is at risk for a birth defect such as Down Syndrome or spina bifida
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Presymptomatic Testing
Genetic testing that is used to determine whether persons with a family history of a disorder, but nor current symptoms, have the gene mutation
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Recessive
A genetic trait that is expressed only when a person has two copies of a mutant autosomal gene or a single copy of a mutant X-linked gene in the absence of another X chromosome
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Variable Expression
Variation in the degree to which a trait is manifested; clinical severity
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X-linked
Located on the X chromosome
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