Haplotype Analysis of GJB2 Mutations: Founder Effect or Mutational Hot Spot?

ABSTRACT: The GJB2 gene is the most frequent cause of congenital or early onset hearing loss worldwide. In this study, we investigated the haplotypes of six GJB2 mutations frequently observed in Japanese hearing loss patients (i.e., c.235delC, p.V37I, p.[G45E; Y136X], p.R143W, c.176_191del, and c.299_300delAT) and analyzed whether the recurring mechanisms for each mutation are due to founder effects or mutational hot spots. Furthermore, regarding the mutations considered to be caused by founder effects, we also calculated the age at which each mutation occurred using the principle of genetic clock analysis. As a result, all six mutations were observed in a specific haplotype and were estimated to derive from founder effects. Our haplotype data together with their distribution patterns

SUBMITTER: Shinagawa J 

PROVIDER: S-EPMC7140863 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature