EDA基因新剪切突变导致X连锁少汗性外胚层发育不良

发布时间：2018-04-27 02:40

本文选题：X连锁少汗性外胚层发育不良 + 基因突变　；参考：《上海交通大学学报(医学版)》2017年03期

【摘要】：目的·检测一X连锁少汗性外胚层发育不良家系EDA基因突变位点。方法·提取先证者及其家系共13位成员外周血基因组DNA,PCR扩增EDA基因编码区的8个外显子及其2端侧翼序列并测序,明确突变位点。结果·先证者及其患病哥哥EDA基因6号内含子剪切供体发生TA突变,而家系无其他外胚层发育不良临床表现成员,均无该位点突变。结论·该家系中IVS 6+2TA(g.69250372,Xq22.3)突变为剪切致病突变,属国内外首报,是X连锁少汗性外胚层发育不良的新致病突变。该突变可用于遗传咨询和产前诊断,减少出生缺陷。
[Abstract]:Objective to detect the mutation site of EDA gene in a X-linked hypohidrotic ectodermal dysplasia family. Methods eight exons and two flanking sequences of EDA gene coding region were amplified by PCR from 13 members of proband and their families, and the mutation sites were identified. Results TA mutation occurred in intron 6 of probands and their brother EDA gene, but no mutation was found in any of the families with ectodermal dysplasia. Conclusion the IVS 62TAG 69250372Xq22.3) mutation is the first reported at home and abroad and is a new pathogenetic mutation of X-linked hypohidrotic ectodermal dysplasia. The mutation can be used in genetic counseling and prenatal diagnosis to reduce birth defects.
【作者单位】：上海交通大学附属第一人民医院泌尿外科中心男科/盆底尿失禁外科辅助生殖医学科上海交通大学泌尿外科研究所男性健康评估中心上海市生殖医学重点实验室;上海市浦东新区中医医院泌尿外科;上海交通大学医学院附属仁济医院医学与临床干细胞研究中心国家肿瘤及相关基因重点实验室;
【基金】：国家重点基础研究发展计划(973计划)(2012CB96603) 上海市新兴前沿技术项目(SHDC12015122)~~
【分类号】：R596.1

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