Molecular Genetic Analysis of 25 bp deletion in MYBPC3 Gene in Karachi, Pakistan
Abstract
This study focuses on South-Asian-specific 25-bps deletion in the MYBPC3 gene which is linked to hypertrophic cardiomyopathy (HCM), a cardiovascular disorder characterized by heart muscle thickening and impaired function. Using 100 blood samples from healthy individuals in Karachi, Pakistan; we conducted a molecular genetics analysis of 25-bps deletion variant in the MYBPC3 gene. Among the samples tested, 3 exhibited a homozygous deletion (genotype frequency = 0.1 or 10%), and 10 displayed heterozygous deletion (genotype frequency = 0.03 or 0.3%). Two participants with homozygous deletion were smokers, whereas one of these carriers had a family member with cardiomyopathy. The discovery of the 25-base pair deletion in the MYBPC3 gene among healthy individuals calls for additional research to explore its potential clinical and therapeutic significance.