大同地区耳聋基因GJB2和mtDNA1555突变分析  

The mutation analysis of the hereditary deafness associated gene GJB2 and site mtDNA 1555 from district of Datong

作　　者：白秀英 周永安[2] 郝子琪[2] 石懿玉[3] 栗向韶[2] 马云霞[2] 张全斌[2] 李鹏丽[2] 李娇[2] 王湘[2] 

机构地区：[1]大同市南郊人民医院,大同037000 [2]太原市中心医院中心实验室,太原030009 [3]山西医科大学研究生学院,太原030001

出　　处：《中国优生与遗传杂志》2014年第1期33-34,38,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的通过筛查大同地区87例耳聋患者常见基因GJB2和mtDNA1555的突变频率,研究该地区GJB2和mtDNA1555基因突变情况及热点突变位点。方法采集大同地区87例耳聋患者外周血,对目的基因扩增并进行测序分析。结果所有患者中有58例GJB2基因检测到11个突变位点,与编码连接蛋白的非综合征耳聋突变数据库(http://davinci.crg.es/deafness/index.php?seccion=mut_db&db=nonsynd)比对,9个位点已见报道,其中包括5个多肽位点c.79 G>A、c.341 A>G、c.608 T>C、c.368 C>A、c.765T>C和4个致病位点c.235delC、c.109 G>A、c.176-c.191 del 16和c.299-c.300delAT,其中,c.79 G>A是主要突变方式,携带率为24.14%(42/174)。新发现两例未见报道的突变位点c.277A>G和c.558G>A;患者中只有1例检测到mtDNA1555A>G位点突变。结论通过对大同地区GJB2基因和mtDNA1555突变位点的研究,了解大同地区该基因突变谱,为后续国内耳聋基因型分布提供数据支持,同时也为耳聋的早期诊断,治疗提供理论依据。Objective ： Learn the situation and the hot - spot mutations in Datong by screening the gene GJB2 and site mtDNA 1555 from 87 deaf patients. Methods ： Collection peripheral blood of 87 deaf patients in Datong, and PCR was used for amplifying the piece of gene where gene GJB2 and site mtDNA 1555 are located followed by sequencing. Results ： 11 mutations sites of GJB2 gene were de-tected in 58 abnormal samples. Comparing with hereditary deafness （ http： //davinci. crg. es/deafness/index, php？ seccion = mut_ db＆db = nonsynd）, 9 sites has been reported, five polypeptide sites, c. 79 G 〉 A, c. 341 A 〉 G, c. 608 T 〉 C, c. 368 C 〉 A, c. 765T 〉 C, four pathogenic sites, c. 235delC, c. 109 G 〉 A, c. 176 - c. 191 del 16, c. 299 - c. 300delAT. GJB2 c. 79 G 〉 A is the main pathogenic mutation site, and the mutation rate are 24. 14% （42/174） . 2 mutations c. 277A 〉 G and c. 558G 〉 A were newly reported, mr. 1555 homozygous mutant was detected from one patient. Conclusion： We detect the gene mutation spectrum in Datong area by research mutation of gene GJB2 and mtDNA 1555. What＇s more, our study provide experimental data for deafness gene screening, theoretical basis for the early diagnosis and treatment of deafness.

关 键 词：耳聋 基因突变 GJB2 mtDNA1555 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]