[北京915例携带GJB2杂合突变新生儿的测序分析]

[The sequencing analyze of 915 newborn with GJB2 heterozygous mutation in Beijing].

出版信息

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2015 Jul;29(13):1164-7.

Abstract

OBJECTIVE

To determine GJB2 allelic mutant and estimate probability of hereditary hearing loss in newborn with GJB2 heterozygous mutation in Beijing.

METHOD

We performed genetic testing for sequencing of GJB2 gene for searching GJB2 allelic mutant in 915 newborn who received newborn deafness gene screening (GJB2 c. 235delC, GJB2 c. 299_300delAT, GJB2 c. 176191del16, GJB2 c. 35delG) in Beijing Tongren hospital, and the mutation were classified to pathogenic mutation,undefined variant and polymorphism.

RESULT

Four hundred (43.72%, 400/915) newborn were detected to carry at least one mutation allele in GJB2. 3 (0.33%, 3/915) newborn had pathogenic mutations (c. 94C>T, c. 380G>T, c. 344T>G); 62 (6.76%, 62/915) newborn carried 14 undefined variant, 36 newborn had c. 109G>A (58.06%, 36/62),13 newborn had c. 368C>A (20.97%,13/62), six (c. 268C>G, c. 282C>T, c. 294G>C, 456C>T, c. 501G>A, c. 587T>C) are novel; 335 (36.61%, 335/915) newborn were polymorphism.

CONCLUSION

The probability of hereditary hearing loss is 7.09% in newborn with GJB2 heterozygous mutation in Beijing. It is noteworthy that c. 109G>A, c. 368C>A occupy a high proportion.

摘要

目的

确定北京地区携带GJB2杂合突变的新生儿中GJB2等位基因突变情况，并评估遗传性听力损失的概率。

方法

对在北京同仁医院接受新生儿耳聋基因筛查（GJB2基因c.235delC、GJB2基因c.299_300delAT、GJB2基因c.176_191del16、GJB2基因c.35delG）的915例新生儿进行GJB2基因测序的基因检测，将突变分为致病突变、未定义变异和多态性。

结果

检测发现400例（43.72%，400/915）新生儿至少携带一个GJB2突变等位基因。3例（0.33%，3/915）新生儿有致病突变（c.94C>T、c.380G>T、c.344T>G）；62例（6.76%，62/915）新生儿携带14种未定义变异，其中36例新生儿有c.109G>A（58.06%，36/62），13例新生儿有c.368C>A（20.97%，13/62），6种（c.268C>G、c.282C>T、c.294G>C、456C>T、c.501G>A、c.587T>C）为新发现的变异；335例（36.61%，335/915）新生儿为多态性。