摘要
目的了解血友病A病人FⅧ基因突变情况,探讨FⅧ基因突变与血友病A发生的相关性。方法采用Sanger测序的方法,检测1例血友病A病人及其母亲FⅧ基因外显子编码区突变;采用多重连接探针扩增(MLPA)技术,检测病人FⅧ基因各个外显子是否发生缺失、重复突变;采用长距离聚合酶链式反应(LD-PCR)技术,检测病人FⅧ基因的内含子1、内含子22倒位突变。结果血友病A病人检测到FⅧ基因2158位点一个半合子的致病突变,其母亲检测到同一位点的杂合突变。结论血友病A病人FⅧ基因2158位点发现突变,该突变遗传自病人之母,可能是导致血友病A发病的致病性变异。
Objective To understand the FⅧ gene mutation in one patient with hemophilia A,and explore the correlation between FⅧ gene mutation and the disease. Methods Employing Sanger sequencing,the exon coding region mutations of FⅧ gene in one patient with hemophilia A and his mother was detected,and Multiplex ligation-dependent probe amplification（MLPA）was used to detect whether the exons of FⅧ gene were deleted or duplicated mutation.Adopting Long-distance PCR（LD-PCR）technique,the inversion of intron 1and intron 22 of FⅧ gene were detected. Results The patient was found to have a half-zygotic mutations in the 2158 locus of the FⅧ gene,and his mother was detected with heterozygous mutations at the same site. Conclusion Mutation was found in the 2158 locus of the FⅧ gene in the patient with hemophilia A.This mutation is inherited from his mother and may be a pathogenic mutation of the disease.
出处
《青岛大学医学院学报》
CAS
2017年第2期143-145,共3页
Acta Academiae Medicinae Qingdao Universitatis
