Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population

In conclusions, the variants in LDLR, GAA and ATP7B genes were identified in Taiwanese population, indicating individuals had higher risk of Pompe disease, Wilson ’s disease and familial hypercholesterolemia. Taiwanese individuals carrying GJB2 and GJB6 had the considerable risk of hearing loss passing to their offspring.
Source: Journal of Human Genetics - Category: Genetics & Stem Cells Source Type: research