A Large Family With mtDNA 1555A>G Heteroplasmic Mutation
SHEN Shan-Shan
WANG Lin-Kai
LIU Chang
XU Zhi-Yong
HU Yu-Hua
GAO Guo-Feng
WANG Sha-Yan
Abstract：Objective To study the relationship between mutation load and severity of hearing loss and to further ana-lyze the heteroplasmic mtDNA transmission in a large pedigree with heteroplasmy for 1555A>G. Methods Heteroplasmy was tested and quantified using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), direct sequencing and Denaturing High Performance Liquid Chromatography (DHPLC). Correlation was analyzed together with clinical data. Results The clinical phenotype varied from normal to severe or profound deafness. Six heteroplasmic sub-jects, ten homoplasmic subjects and two wild-type subjects were detected by PCR-RFLP and sequencing. The results of DHPLC revealed that the proportion of mutation load ranged from 11.9%to 97.9%, and four subjects who were considered as homoplasmic or wild-type subjects in previous testing were additionally identified as heteroplasmy. Conclusion There is a strong correlation between the mutation load and severity of hearing loss/sensitivity to aminoglycosides (r=0.758, P<0.001). In addition, the mutation level of offspring is associated with their mothers’in this pedigree, which indicates that there may exist a pattern in the process of heteroplasmic transmission.
Keywords：mtDNA 1555A>G mutationheteroplasmyhearing lossclinical phenotypeDHPLC
Publication Date：2013-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 435-439 )