Study of mitochondrial DNA A1555G mutation among nonsyndromic hearing impairment in Chinese population
- VernacularTitle:中国人非综合征型耳聋患者线粒体DNAA1555G突变分析
- Author:
Qi-Shui OU
;
Zu-Jian CHENG
;
Jing CHEN
;
Bin YANG
;
Ling JIANG
;
Sheng-Nan YE
;
- Publication Type:Journal Article
- Keywords:
Nonsyndromic hearing impairment;
DNA mutation analysis;
DNA,mitochondrial
- From:
Chinese Journal of Laboratory Medicine
2001;0(03):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To study the prevalence of the mtDNA A1555G gene mutation in Chinese population with nonsyndromic hearing impairment.Methods PCR-RFLP,directional sequencing of PCR products were applied in 325 patients with nonsyndromic hearing impairment and 50 normal controls.Results The mutation rate of the mtDNA A1555G was 14.5% (47/325),28 of 47 cases were homozygosis,19 of 47 cases were heterozygosis.The same mutation was not detected in the control subjects.Conclusion The mutation rate of the mtDNA A1555G is relatively high in the Chinese NSHI patients,the mutation type includes both heterozygosis and homozygosis.
