Frequency of mitochondrial DNA point mutations among patients with familial sensorineural hearing impairment

被引：30

作者：

Lehtonen, MS

Uimonen, S

Hassinen, IE

Majamaa, K

机构：

[1] Univ Oulu, Dept Neurol, FIN-90401 Oulu, Finland

[2] Univ Oulu, Dept Med Biochem, FIN-90401 Oulu, Finland

[3] Univ Oulu, Dept Otorhinolaryngol, FIN-90401 Oulu, Finland

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2000年 / 8卷 / 04期

基金：

芬兰科学院; 英国医学研究理事会;

关键词：

genetic epidemiology; mitochondrial encephalomyopathy; etiology; population genetics; MELAS; aminoglycoside; point mutation; prevalence; hereditary hearing loss;

D O I：

10.1038/sj.ejhg.5200455

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Several point mutations in mitochondrial DNA (mtDNA) have been shown to cause sensorineural hearing impairment (SNHI), but the frequency of these mutations among patients is not known. We identified 117 patients with possible matrilineal SNHI from population-based registers and found the 3243A > G mutation to be present in 4.3% and 1555A > G in 2.6%, while 7445T > C, 7472insC and 8344A > C were absent. Patients with 3243A > C and 1555A > C were clinically distinct. The prevalence of 1555A > C in the general adult population was estimated to be at least 4.7/100000, but these and previous data suggest that the figure may vary between populations. Screening for mtDNA mutations is worthwhile in connection with the diagnosis of SNHI.

引用

收藏

页码：315 / 318

页数：4

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