The Occurrence of High Frequencies of MBL2 polymorphisms in the Xhosa ethnic group of South Africa

Abstract

Polymorphic changes in a given population give rise to genetic variations. These variations account for differences found within a population. One of the most abundant and common genetic variant that occur in the population is the Single Nucleotide Polymorphisms which are point mutations in genes. The study assessed the frequency of single nucleotide polymorphisms in mannose binding lectin (MBL2) gene namely rs8191996, rs1838065, rs8179079 and rs1800450 in 366 adult individuals drawn from Xhosa ethnic group of South Africa. The polymorphisms showed high frequencies in its occurrence which was 0.71, 0.42, 0.71 and 0.73 for rs8191996, rs1838065, rs1800450 and rs8179079 respectively. Additionally, the genotype distribution of these polymorphisms showed a predominance of homozygotes over heterozygotes and were in accordance with Hardy-Weinberg principle. The high frequencies of the MBL2 polymorphisms under study in this population suggest that there is a high incidence of single gene mutations in Xhosa ethnic group which could make the population vulnerable to infection.

DOI: 10.7176/JBAH/10-6-04

Publication date:March 31^st 2020