一个遗传性凝血因子Ⅶ缺乏症家系的基因突变分析及产前诊断  

Mutation analysis and prenatal diagnosis for a family affected with congenital factor Ⅶ deficiency

作　　者：彭薇[1] 张树欣 刘欣[1] 谷亚楠[1] 王艳[1] 

机构地区：[1]北京军区总医院附属八一儿童医院发育生物学实验室,100700 [2]河北省唐山市滦南县公安局,063500

出　　处：《中华医学遗传学杂志》2016年第3期357-360,共4页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金（81300527）

摘　　要：目的对1个遗传性凝血因子Ⅶ（factorⅦ，FⅦ）缺乏症家系进行致病基因的突变分析和产前诊断。方法提取先证者及其父母外周血基因组DNA，用PCR扩增FⅦ基因的所有外显子及其侧翼序列，并对扩增产物进行测序分析，确定先证者及其父母的基因型后，再抽取再孕母亲的胎儿羊水进行产前诊断。结果先证者FⅧ基因发生c．572—1G〉A纯合突变（NM_000131．3），父母及胎儿均为该突变的携带者。结论建立了对遗传性FⅦ缺乏症进行基因诊断和产前诊断的方法，并成功应用于一个家系。Objective To provide mutation analysis and prenatal diagnosis for a family affected with congenital factor Ⅶ （FⅦ） deficiency. Methods DNA was extracted from peripheral blood samples from the proband and his parents. All exons and flanking sequence of the FⅦ gene were amplified with PCR and subjected to direct sequencing. Prenatal diagnosis was performed by amniocentesis. Results A homozygous mutation （NM 000131. 3） c. 572-1G〉~A was identified in the proband. Both parents of the fetus were carriers of the mutation. Conclusion A method for molecular diagnosis of congenital factor Ⅶ deficiency was established and successfully applied for an affected family.

关 键 词：FⅦ基因 剪切位点突变 羊水 产前诊断 

分 类 号：R440[医药卫生—诊断学] R714.5[医药卫生—临床医学]