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Definition
| an individual with 2 different mutant alleles at the same locus |
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Definition
| a single gene has diverse effects on multiple organ systems (ex. mutations in the fibrillin [FBN1] gene lead to Marfan Syndrome which is associated with cardiac, skeletal, and eye manifestations.) |
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| similar phenotypes caused by mutations at different genetic loci (ex. Tuberous Sclerosis results from mutations in the TSC1 gene, on chromosome 9, and from mutations in the TSC2 gene on chromosome 16) |
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Definition
| a condition which is due to environmental factors but resembles one which is genetic |
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Definition
| similar or identical phenotypes cause by different mutant alleles at the same genetic locus, ex. Beta thallassemia |
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Definition
| Autosomal dominant; variable expressivity; allelic heterogeneity |
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Definition
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Definition
| Autosomal dominant; sporadic cases occur |
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Definition
| Autosomal dominant; late age of onset |
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Definition
| Autosomal dominant; locus heterogeneity |
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Definition
| Autosomal recessive; high carrier frequency; excess iron absorption in GI tract |
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Definition
| Autosomal recessive; locus heterogeneity |
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Definition
| Autosomal recessive; allelic heterogeneity |
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Term
| Duchenne Muscular Dystrophy |
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Definition
| X-linked recessive; new mutations occur |
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Definition
| x-linked recessive; heterozygotes can manifest |
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Definition
| x-linked recessive; heterozygotes manifest |
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| Vitamin D resistant rickets |
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Definition
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Term
| Chondrodysplasia punctata |
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Definition
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