银川市兴庆区汉、回族新生儿常见耳聋基因突变特点研究

Investigation on the Mutation Characteristics of Common Deafness Genes in Han,Hui Newborns in Xingqing District of Yinchuan City

顾洁;王宝珍;赵娟萍;陈璠;王杨;任雪琴;

1:银川市妇幼保健院

在线阅读

摘要

目的了解银川市兴庆区汉、回族新生儿常见遗传性聋易感基因携带情况,为该地区建立耳聋基因遗传咨询以及耳聋预防体系提供依据。方法以2018年3月～2019年4月兴庆区出生的5 579例新生儿为研究对象,其中汉族4 712例,回族867例,均采集足跟血,采用晶芯十五项遗传性聋基因检测试剂盒(微阵列芯片法)对4个常见遗传性聋基因GJB2 (c.35 del G、c.176 del 16、c.235 del C和c.299_300 del AT)、GJB3(c.538 C> T)、SLC26A4(c.2168 A> G、c.1174 A> T、c.1226 G> A、c.1229 C> T、c.1975 G> C、c.2027 T> A、c.1707+5G>A和c.919-2 A> G)、mtDNA12SrRNA(m.1494 C> T和m.1555 A> G)共15个突复位变位点进行检测。结果 5 579例新生儿中,共检出耳聋基因携带者255例(4.57%,255/5 579),其中汉、回族分别为192例(4.07%,192/4 712)、63例(7.27%,63/867),前者低于后者(χ2=18.69,P=0.001)。汉、回族新生儿检测出GJB2基因突变携带者分别是87例(1.84%)、28例(3.23%),SLC26A4基因突变携带者分别为83例(1.76%)、32例(3.70%),mtDNA12SrRNA基因突变携带者分别为11例(0.23%)、1例(0.12%),GJB3基因突变携带者分别为7例(0.15%)、2例(0.23%)。GJB2、GJB3、SLC26A4以及mtDNA12SrRNA基因突变携带率在两个民族间差异均有统计学意义(P<0.05)。结论银川市回、汉族常见耳聋基因突变谱存在一定差异,回族人群耳聋基因突变呈现地域以及人种特点。

关键词

汉族;回族;耳聋基因突变;新生儿

基金项目(Foundation):

宁夏回族自治区银川市兴庆“新生儿耳聋基因筛查”惠民项目

作者

顾洁;王宝珍;赵娟萍;陈璠;王杨;任雪琴;

参考文献

1 林晓江,陈东野,吴皓,等.一个常染体显性非综合征型耳聋大家系的临床特征及79个已知耳聋基因的检测分析[J].中华耳鼻咽喉头颈外科杂志,2014,8:654.

2 蒙翠原,盛晓丽,崔勇,等.广东省非综合征耳聋患者GJB2基因及常见耳聋基因突变分析[J].实用医学杂志,2013,7:1075.

3 Lancet T.Hearing loss:an important global health concern[J].Lancet,2016,387:2351.

4 Imtiaz F,Taibah K,Ramzan K,et al.A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the Saudi Arabian population[J].BMC Medical Genetics,2011,1:91.

5 Maria BG.Hereditary deafness and phenotyping in humans[J].British Medical Bulletin,2002,63:73.

6 王秋菊,赵亚丽,兰兰,等.新生儿聋病基因筛查实施方案与策略研究[J].中华耳鼻咽喉头颈外科杂志,2007,42:809.

7 杨曦,邹红云,赵华.新疆地区不同民族人群耳聋相关基因研究进展[J].听力学及言语疾病杂志,2018,26:329.

8 章雪芹,李晓璐.我国不同地区新生儿听力和耳聋基因联合筛查的应用与分析[J].中国优生与遗传杂志,2016,7:11.

9 戴朴,袁永一.基于基因筛查和诊断的耳聋出生缺陷三级预防[J].中华耳鼻咽喉头颈外科杂志,2013,12:973.

10 Mazurek B,Fuchs J.Decrease of prestin expression by increased Potassium concentration in or ganotypic cultures of the organ of corti of newbornrates[J].Neurosci Lett,2011,1:52.

11 Tao MA.Epidemiological studies on mtDNA12SrRNA A1555G mutation of 10 non syndromic hearing loss families in Yunnan province[J].Journal of Clinical Otorhinolaryngology Head and Neck Surgery,2012,26:581.

12 赵志军,何学虎,钟利,等.新生儿耳聋基因热点突变筛查与分析[J].宁夏医学杂志,2019,40:1096.

13 刘光明,葛菲,杨红,等.3 122例新生儿耳聋基因筛查结果分析[J].中国优生与遗传杂志,2017,25:105.

14 Du W,Wang Q,Zhu Y,et al.Associations between GJB2,mitochondrial 12SrRNA, SLC26A4 mutations,and hearing loss among three ethnicities[J].Biomed Research International,2014,11:746838.

15 Yan D,Park HJ,Ouyang XM.et al.Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians[J].Human Genetics,2003,1:44.

16 Dai P,Yu F,Han B.et al.The prevalence of the 235delC GJB2 mutation in a Chinese deaf population[J].Genetics in Medicine,2007,5:283.

17 Dong J,Katz DR,Eng CM,et al.Nonradioaetive detection of the common connexin 26 167delT and 35delG mutations and frequencies among Ashkenazi Jews[J].Molecular Genetics and Metabolism,2001,73:160.

18 Yao YG.Different matrilineal contributions to genetic structure of ethnic groups in the silk road region in China[J].Molecular Biology and Evolution,2004,12:2265.

19 Wang QJ,Zhao YL,Rao SQ,et al.A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China[J].Clinical Genetics,2010,3:245.

20 Park HJ,Shaukat S,Liu XZ,et al.Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians:global implications for the epidemiology of deafness[J].Journal of Medical Genetics,2003,4:242.

本文信息

PDF(120K)

本文关键词相关文章

汉族回族耳聋基因突变新生儿

本文作者相关文章

顾洁王宝珍赵娟萍陈璠王杨任雪琴