一例Wiskott-Aldrich综合征致病基因突变分析及产前诊断

基础医学与临床 ›› 2009, Vol. 29 ›› Issue (6): 580-583.

一例Wiskott-Aldrich综合征致病基因突变分析及产前诊断

佃艳孟岩姚凤霞王铮彭园园李晓侨黄尚志

中国医学科学院基础医学研究所北京协和医学院基础学院中国医学科学院基础医学研究所北京协和医学院基础学院中国医学科学院基础医学研究所北京协和医学院基础学院

收稿日期:2009-03-30 修回日期:2009-04-13 出版日期:2009-06-25 发布日期:2009-06-25
通讯作者: 黄尚志

Gene mutation analysis in a patient with Wiskott-Aldrich syndrome and custom prenatal testing for the family

Yan DIAN, Yan MENG, Feng-xia YAO, Zheng WANG, Yuan-yuan PENG, Xiao-qiao LI, Shang-zhi HUANG

School of Basic Medicine，IBMS，CAMS & PUMC School of Basic Medicine，IBMS，CAMS & PUMC School of Basic Medicine，IBMS，CAMS & PUMC

Received:2009-03-30 Revised:2009-04-13 Online:2009-06-25 Published:2009-06-25
Contact: Shang-zhi HUANG

摘要/Abstract

摘要： 目的研究1例Wiskott-Aldrich综合征的致病基因突变类型，并以此为依据对该患者家庭做定制的产前诊断。方法采集该家系中患者及正常人血样，提取DNA，用聚合酶链反应扩增WASP基因，并对扩增产物进行直接测序，确定突变位点。患儿母亲再次妊娠12周时，取胎儿绒毛组织，进行定制的产前诊断。结果患儿存在WASP基因c.107-108delTT突变，其母亲为杂合子，胎儿不存在该位点的异常。结论该患儿发病是由WASP基因突变所致，胎儿不存在此位点异常。

关键词: Wiskott-Aldrich综合征, WASP基因, 突变, 定制的产前诊断

Abstract: Objective To determine the mutations of WASP in a WAS patient, and to make custom prenatal testing for the family. Methods Blood samples of the individuals in this family were collected. Mutation screening was carried out by PCR and direct sequencing. 21-trisomy testing and the gender of the fetus were carried out before gene diagnosis for the mutation. Results A double-nucleotide-deletion (c.107-108delTT) was identified in exon 1 of WASP gene in the proband and his mother. The fetus is female and acquires the normal from the mother. Conclusion The c.107-108delTT mutation was responsible for the disease in the family. The fetus is a normal female.

Key words: WAS, WASP gene, Mutations, Custom prenatal testing

佃艳孟岩姚凤霞王铮彭园园李晓侨黄尚志. 一例Wiskott-Aldrich综合征致病基因突变分析及产前诊断[J]. 基础医学与临床, 2009, 29(6): 580-583.

Yan DIAN; Yan MENG; Feng-xia YAO; Zheng WANG; Yuan-yuan PENG; Xiao-qiao LI; Shang-zhi HUANG. Gene mutation analysis in a patient with Wiskott-Aldrich syndrome and custom prenatal testing for the family[J]. Basic & Clinical Medicine, 2009, 29(6): 580-583.

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