Comparative analysis of the recurrent mutations between Uigur and Han ethnic deaf group in Xinjiang region of China
10.3969/j.issn.1001-1781.2010.01.004
- VernacularTitle:新疆地区汉族和维吾尔族耳聋基因突变的比较研究
- Author:
Qi LI
;
Ruping FANG
;
Deliang HUANG
;
Guojian WANG
;
Xin LIU
;
Pu DAI
- Publication Type:Journal Article
- Keywords:
hearing loss;
genetic test;
mtDNAA1555G;
mtDNAC1494T;
SLC26A4IVS7-2 A>G;
GJB2;
mutation
- From:
Journal of Clinical Otorhinolaryngology Head and Neck Surgery
2010;(1):11-15
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the recurrent mutations between Uigur and Han ethnic deaf group in Xinjiang region and determine the relationship between ethnicity and mutations.Method:DNA were extracted from peripheral blood of 125 deaf patients from Urumqi and Korla special educational schools in Xinjiang.Audiologic examinations showed that all patients had severe to profound bilateral sensorineural hearing hoss. The coding region of GJB2 gene, SLC26A4 and mitochondrial DNA target fragments were amplified by polymerase chain reaction(PCR).Mutations in GJB2 gene, SLC26A4IVS7-2 A>G, mtDNA 1494C>T and mtDNA1555 A>G were identified by sequencing analysis.Result:Allelic Frequency of the GJB2 35delG and SLC26A4IVS7-2 A>G mutations in Han deaf students were 7.4%and 10.1%,respectively, whereas not found in Uigur deaf groups.The difference was statistically significant. We did not find significant differences in GJB2 235 delC, 299-300delAT, mtDNA A1555G and C1494T allelic frequency between Uigur and Han students.Conclusion:Prevalence of the recurrent mutations between Uigur and Han ethnic deaf group in Xinjiang has a great diversity.
