浙江省余姚地区22个非综合征型耳聋家系遗传分析

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Abstract Objective: To explore the clinical, genetic and molecular characteristics of twenty-two families with non-syndrome deafness in Yuyao area. This study focused on analyzing mutations of mitochondrial gene and coding sequence of GJB2, GJB3, GJB6 gene. Methods: The samples were 33 patients with non-syndrome deafness come from 22 families in YuYao People’s hospital, and 254 cases with normal hearing. DNA were extracted out from peripheral blood of all subjects. All samples’ GJB2, GJB3 and GJB6 gene encoding region and mitochondrial gene were analyzed by direct sequencing, audiological examination, genetic testing for deafness and pedigree data. Results: The sequencing results revealed that 4 families carried GJB2 235delC mutation, 2 families carried GJB2 compound heterozygous mutations accounted for 27.3% and 3 families carried mitochondrial 12S rRNA A1555G accounted for 13.6% in the 22 families with non-syndrome deafness. All families without pathogenic mutations in the GJB3 and GJB6 encoding region. According to clinical data, 6 families with GJB2 gene mutations and 3 families with 1555A>G mutations had different levels in hearing loss, age of onset, and the rate of hearing loss. Conclusion: GJB2 and mitochondrial 12S rRNA 1555A>G gene mutation are the main genetic inheritance for the patients with non-syndrome deafness in Yuyao area, there may also be other unknown genes or environmental factors to coordinated with GJB2 gene and mitochondrial 12S rRNA gene co-modulate the variable penetrance and expressivity of deafness.

Key words： non-syndromic deafness GJB2 mitochondria DNA gene mutations

Received: 18 November 2015

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	PENG Guanghua
	WANG Hui
	YAO Juan
	FAN Wenlu
	TANG Xiaowen
	ZHENG Binjiao
	XUE Ling
	LYU Jianxin
	GUAN Minxin.

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https://xb.wmu.edu.cn/EN/ OR https://xb.wmu.edu.cn/EN/Y2016/V46/I10/709

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