耳聋突变基因携带孕妇的配偶基因测序研究  

Study on spouse gene sequencing for pregnant women carrying deafness gene mutation

作　　者：曾黎[1] 尚晶晶 刘正立 石亮程[1] 柳钐 ZENG Li;SHANG Jingjing;LIU Zhengli;SHI Liangcheng;LIU Shan(Department of Genetics,Changsha Municipal Maternal and Child Healthcare Hospital,Changsha,Hunan 410007,China;College of Biological Science and Engineering,Hebei University ofScience and Technology,Shijiazhuang,Hebei,050018,China;Capital BiotechBioechnology Co.,Ltd.,Beijing 101111,China)

机构地区：[1]湖南省长沙市妇幼保健院遗传科,410007 [2]河北科技大学生物科学与工程学院,石家庄050018 [3]北京博奥晶典生物技术有限公司,北京101111

出　　处：《检验医学与临床》2018年第20期3092-3094,共3页Laboratory Medicine and Clinic

摘　　要：目的探讨对耳聋突变基因携带孕妇的配偶进行基因测序在降低出生缺陷二级预防中的意义。方法从1 951例孕妇中检出78例耳聋突变基因携带者,对其丈夫进行相应基因测序,若Sanger测序法检测发现双方为同一耳聋突变基因携带者,在知情同意前提下,对胎儿进行耳聋基因产前诊断。结果对78例耳聋基因携带孕妇的配偶进行相应基因测序,发现耳聋基因突变12例,其中相同突变基因的携带者4例,其中SLC26A4基因杂合突变与GJB2基因杂合突变携带者各2例。4对夫妇在充分告知和知情同意的前提下通过羊水穿刺进行胎儿耳聋基因产前诊断。结论在孕妇群体中使用基因芯片进行耳聋基因筛查,可以有效检出耳聋基因携带者,通过对其丈夫进行相应耳聋基因测序分析,针对双方为同一致病突变基因携带者的夫妇进行相应基因的产前诊断,可以有效降低先天性耳聋患儿出生率。Objective To investigate the significance of conducting the spouse gene sequencing of pregnant women carrying deafness gene mutation in the secondary prevention for reducing birth defects.Methods Among 1 951 pregnant women,78 cases of deafness gene mutation carriers were detected and the corresponding gene sequencing was conducted in their spouses.If the Sanger sequencing method found that both sides were the carriers with same deafness gene mutation,the fetus conducted the prenatal diagnosis of deafness gene on the premise of informed consent.Results The corresponding gene sequencing was performed in the spouses of78 pregnant women carrying deafness gene,12 cases of deafness gene mutation were found,of which 4 cases carried the same mutant gene,including 2 cases of SLC26 A4 gene heterozygous mutation and GJB2 gene heterozygous mutation.Four couples conducted the prenatal diagnosis of fetal deafness gene by amniocentesis under full informed and informed consent.Conclusion Conducting the deafness gene screening in the pregnant group by gene chip can effectively detect the deafness gene carriers.Conducting the corresponding deafness genes sequencing analysis in their husbands and the prenatal diagnosis of the corresponding genes for the couples with the same gene mutation carrier can effectively reduce the birth rate of neonates with congenital deafness.

关 键 词：孕妇 耳聋基因 携带者 筛查 产前诊断 

分 类 号：R714.53[医药卫生—妇产科学]