青岛大学医学院学报2017，Vol.53Issue(2)：143-145,3.DOI:10.13361/j.qdyxy.201702006
血友病A病人FⅧ基因突变的检测
DETECTION OF FⅧ GENE MUTATION IN PATIENT WITH HEMOPHILIA A: REPORT OF ONE CASE
王艺霖 1徐英蕾 2刘世国 2张祥 3吴翠娇1
作者信息
- 1. 青岛大学医学院组织胚胎学教研室,山东青岛266021
- 2. 青岛大学附属医院产前诊断中心
- 3. 青岛市市立医院输血科
- 折叠
摘要
Abstract
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 F Ⅷ 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 F Ⅷ gene were deleted or duplicated mutation.Adopting Long-distance PCR (LD-PCR) technique,the inversion of intron 1 and intron 22 of F Ⅷ 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.关键词
血友病A/DNA突变分析/FⅧ基因Key words
hemophilia A/DNA mutational analysis/FⅧ gene分类
医药卫生引用本文复制引用
王艺霖,徐英蕾,刘世国,张祥,吴翠娇..血友病A病人FⅧ基因突变的检测[J].青岛大学医学院学报,2017,53(2):143-145,3.
