Definitions for "Single Gene Disorder"
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.
A disorder caused by a mutation in a single gene e.g. Cystic Fibrosis is due to CFTR mutations
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.