一个X连锁无汗型外胚叶发育不全综合征家系EDA基因的检测

›› 2017, Vol. 8 ›› Issue (1): 7-10.

一个X连锁无汗型外胚叶发育不全综合征家系EDA基因的检测

岳海棠¹,梁佳²

1. 湖北省口腔基础医学重点实验室－省部共建国家重点实验室培育基地，口腔生物医学教育部重点实验室，武汉大学口腔医学院，
2. 湖北省口腔基础医学重点实验室－省部共建国家重点实验室培育基地，口腔生物医学教育部重点实验室，武汉大学口腔医学院

收稿日期:2016-12-27 修回日期:2017-02-06 出版日期:2017-03-25 发布日期:2017-04-11
通讯作者: 岳海棠
基金资助:
国家自然科学基金

Streptococcus mutans; fluoride-resistant Streptococcus mutans; rpl gene; RpiR family transcriptional regulator; fructose-specific PTS system

Received:2016-12-27 Revised:2017-02-06 Online:2017-03-25 Published:2017-04-11

摘要/Abstract

摘要： 目的：对一个X连锁无汗型外胚叶发育不全家系进行候选基因EDA的筛查，为该病的遗传咨询及产前诊断提供依据。方法：收集一个X连锁无汗型外胚叶发育不全家系成员的临床资料（包括口腔检查和影像学资料）和外周血样本，改良盐析法提取DNA，采用PCR分段扩增EDA基因的1~9号外显子，通过基因测序，分析该家系EDA基因是否存在突变、突变方式及位点，并进行可疑致病突变的验证分析。结果：在该家系患者及携带者的EDA基因9号外显子发现了一个错义突变（c. 1045 G>A），该突变导致其对应编码的第349位氨基酸由丙氨酸突变成了苏氨酸（p. 349 A>T）。结论：该突变是导致收集家系中患者表型的原因。

Abstract: Objective：To screen EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia and lay a basis for genetic counseling and prenatal diagnosis. Methods：Genomic DNA was isolated from the blood samples of all available family members. All exons of EDA were amplified using polymerase chain reaction (PCR) and then directly sequenced. Results：A missense mutation (c. 1045 G>A) was identified in exon 9 of EDA which changed Ala into Thr in the coding amino acids（p. 349 A>T）. Conclusions：This mutation caused X-linked hypohidrotic ectodermal dysplasia in the investigated family.

岳海棠梁佳. 一个X连锁无汗型外胚叶发育不全综合征家系EDA基因的检测[J]. , 2017, 8(1): 7-10.

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