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| Alternative form of a gene; alleles occur at the same locus on homologous chromosomes. |
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| Any chromosome other than sex chromosomes. |
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| Heterozygous individual who has no apparent abnormality but can pass on an allele for a recessively inherited genetic disorder. |
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| Inheritance pattern in which both alleles of a gene are equally expressed. |
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| Deficiency in one or more of the three kinds of cone cells responsible for color vision. |
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| A generalized, autosomal recessive disorder of infants and children in which there is widespread dysfunction of the exocrine glands. |
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| Individual that is heterozygous for two traits; shows the phenotype governed by the dominant alleles, but carries the recessive alleles. |
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| Allele that exerts its phenotypic effect in the heterozygote; it masks the expression of the recessive allele. |
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| Duchenne Muscular Dystrophy |
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| Chronic progressive disease affecting the shoulder and pelvic girdles, commencing in early childhood. Characterized by increasing weakness of the muscles, followed by atrophy and a peculiar swaying gait with the legs kept wide apart. Transmitted as an X-linked trait, and affected individuals, predominantly males, rarely survive to maturity. Death is usually due to respiratory weakness or heart failure. |
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| Familiar Hypercholesterolemia (FH) |
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| Inability to remove cholesterol from the bloodstream; predisposes individuals to heart attack. |
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| Genes of an individual for a particular traits or traits; often designated by letters, for example, BB or Aa. |
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| Possessing unlike alleles for a specific trait. |
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| Possessing two identical alleles, such as AA, for a particular trait. |
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| Possessing two identical alleles, such as aa, for a particular trait. |
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| Genetic disease marked by progressive deterioration of the nervous system due to the deficiency of a neurotransmitter. |
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| Inheritance pattern in which the offspring has an intermediate phenotype, as when a red-flowered plant and a white-flowered plant produce pink-flowered offspring. |
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| Particular site where a gene is found on a chromosome. Homologous chromosomes have corresponding gene loci. |
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| Congential disorder of connective tissue characterized by abnormal length of the extremities. |
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| Individual that is heterozygous for one trait; shows the phenotype of the dominant allele but carries the recessive allele. |
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| Controlled by several alleic pairs; each dominant allele contributes to the phenotype in an additive and like manner. |
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| Inheritance pattern in which there are more than two alleles for a particular trait; each individual has only two of all possible alleles. |
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| Visible expression of a genotype - for example, brown eyes or attached ear lobes. |
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| Result of accumulation of phenylalanine, characterized by mental retardation, light pigmentation, eczema, and neurological manifestations unless treated by a diet low in phenylalanine. |
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| Trait is controlled by several alleic pairs; each dominant allele contributes to the phenotype in an additive and like manner. |
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| Gridlike device used to calculate the expected results of simple genetic crosses. |
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| Allele that exerts its phenotypic effect only in the homozygote; its expression is masked by a dominant allele. |
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| Chromosome that determines the sex of an individual; in humans, females have two X chromosomes, and males have an X and Y chromosome. |
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| Allele that occurs on the sex chromosomes but may control a trait that has nothing to do with the sex characteristics of an individual. |
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| Genetic disorder in which the affected individual has sickle-shaped red blood cells that are subject to hemolysis. |
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| Lethal genetic disease in which the newborn has a faulty lysomal digestive enzyme. |
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| Allele located on the X-chromosome, but may control a trait that has nothing to do with the sex characteristics of an individual. |
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