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Definitions for "Single Gene Disorder"
Keywords:  mutant, duchenne, dystrophy, allele, sickle
Related Terms: Monogenic, X-linked, Autosomal recessive inheritance, Autosomal dominant inheritance, Haploinsufficiency, Dominant inheritance, Genetic mutation, Mutation, Polygenic inheritance, Polygenic, Suppressor mutation, Germline mutation, Genetic linkage, Genetic disorder, Complementation, Recessive inheritance, Mutagenesis, Gene mutation, Mutant, Genetic, Polymorphism, Mutations, Allele, Autosomal recessive, Dominant gene, Haplotype, Genetic disease, Genotype, Heritable, Loss of heterozygosity, Recessive gene, Null allele, Autosomal dominant, Hereditary mutation, Genomic imprinting, Single nucleotide polymorphisms, Single nucleotide polymorphism, Snp, Somatic mutations, Allozymes, Spontaneous mutation, Frameshift mutation, Epistasis, Genetic marker, Genetic variation, Suppressor gene, Genes , Sex-linked inheritance, Carriers, Genetic markers
An hereditary disorder caused by a mutant allele of a single gene. Example: Huntington disease. SNP (single-nucleotide polymorphism) A SNP is a single-base variation that occurs about every 1,000 bases along the three billion base pairs of the human genome. The most common SNP is a change from cytosine to thymine (C - T) on one strand of DNA, with a change from guanine to adenine (G - A) on the complementary strand.
genetics.gsk.com
A disorder caused by a mutation in a single gene e.g. Cystic Fibrosis is due to CFTR mutations
library.nhs.uk
The presence of an allele in either single dose (dominant disorders in males or females, X-linked disorders in males), or double dose (recessive disorders), accounts for the presence of disease. The inheritance of these disorders follow the ratios first described by Gregor Mendel.
genome.gov
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