有汗型外胚层发育不良家系基因突变分析及孕早期产前诊断  

Mutation analysis and first-trimester prenatal diagnosis for a Chinese family with hidrotic ectodermal dysplasia

作　　者：刘宁[1] 史惠蓉[1] 吴庆华[1] 江森[1] 孔祥东[1] 

机构地区：[1]郑州大学第一附属医院产前诊断中心,450052

出　　处：《中华医学遗传学杂志》2013年第4期407-409,共3页Chinese Journal of Medical Genetics

摘　　要：目的对1个中国汉族有汗型外胚层发育不良家系进行了基因突变分析，并在此基础上对该家系中已孕11周的胎儿进行了产前诊断，为遗传咨询提供依据。方法应用PCR扩增和直接双向测序对1个有汗型外胚层发育不良家系2例患者及6名正常成员的GJB6基因（Cx30基因）的全编码区序列进行突变分析。在确定突变后，取胎盘绒毛活检样本进一步行产前诊断。结果在该家系的2例患者中检测出GJB6基因c．31G〉A的点突变，该突变导致了GJB6蛋白N-末端区域第11垃甘氨酸被精氨酸替代（p．G11R），6名正常家系成员均未检测到该突变。产前诊断结果显示胎儿也携带有GJB6基因c．31G〉A突变。在终止妊娠后，流产物突变分析的结果与产前诊断结果一致。结论GJB6基因c．31G〉A（p．G11R）错义突变是该有汗型外胚层发育不良家系的致病原因，通过基因诊断和产前诊断可以有效阻止致病基因的传递。Objective To analyze GJB6 gene mutations in a Chinese family with hidrotic ectodermal dysplasia and to provide first-trimester prenatal diagnosis for a fetus. Methods Mutation scanning was carried out with PCR and bilateral direct sequencing in 2 affected and 6 unaffected individuals from the family. After the mutation was confirmed, prenatal diagnosis was performed on chorionic villi samples obtained at llth gestational week. Results A heterozygous missense mutation c. 31G〉A of the GJB6 gene was discovered in all of the patients, which has led to substitution of glycine by arginine at codon 11 （p. GllR） at the N terminal of the GJB6 protein. Prenatal diagnosis indicated that the fetus had also carried the same p. GllR mutation. Following termination of the pregnancy, analysis of the aborted tissues was consistent with prenatal diagnosis. Conclusion The missense mutation c. 31G〉A（p. GllR） of the GJB6 gene probably underlies the disease in this family. Prenatal diagnosis with DNA sequencing can facilitate genetic counseling of this family.

关 键 词：有汗型外胚层发育不良 GJB6基因 DNA测序 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]