摘要
目的研究1例Wiskott-Aldrich综合征(WAS)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。
Objective To determine the mutations of WASP in a Wiskott-Aldrich syndrome patient, and to make custom prenatal testing for the family. Methods Blood samples of family members were collected. Mutation screening was carried out by PCR and direct sequencing. Results A double-nucleotide-deletion （c. 107-108delTT） was identified in exon 1 of WASP gene in the proband and his mother. Conclusion The e. 107-108delTT mutation is the cause of the disease in the family. The fetus is a normal female.
出处
《基础医学与临床》
CSCD
北大核心
2009年第6期580-583,共4页
Basic and Clinical Medicine
基金
科技部"十一五"国家科技支撑计划(2006BIA05A08)
北京市科学技术委员会研发攻关类基金(D0906005040491)
