三个血友病B家系的基因诊断
Gene diagnosis of 3 haemophilia B families
张媛 1杨林花 1陆晔玲 2丁秋兰 2王学锋 2刘秀娥 1张丽1
作者信息
- 1. 030001,太原,山西医科大学第二医院血液科
- 2. 上海交通大学医学院附属瑞金医院输血科
- 折叠
摘要
目的 探讨中国汉族3个无关血友病B家系先证者凝血因子Ⅸ(FⅨ)基因突变及分子发病机制,对家系女性成员进行携带者诊断.方法 家系先证者及成员采静脉血,先证者表型诊断确诊后,检测先证者及其家系成员6个STR位点的基因多态性,进行家系遗传连锁分析,应用PCR法对先证者及可疑携带者FⅨ8个外显子及其侧翼序列进行扩增,用末端标记双脱氧法检测核酸序列.结果 家系1先证者FⅨ基因外显子6发现G22119A突变,家系2先证者FⅨ基因外显子2发现G7392C突变,家系3先证者FⅨ基因外显子8发现T32685C突变.结论 血友病B先证者FⅨ基因缺陷是其发病的分子机制.
Abstract
Objective To explore factor Ⅸ gene mutations and molecular mechanism of haemophilia B in 3 unrelated families. Methods The activated partial thromboplastin time (APTT) and F Ⅸ activity ( F Ⅸ : C) assay were used for phenotypic diagnosis. The STR loci gene polymorphisms for genetic linkage a-nalysis in the patients and their family members were assayed. All of the 8 exons and the exon-intron boundaries of F Ⅸ gene were amplified by polymerase chain reaction (PCR) and direct sequencing. Results and Conclusion Mutations were found in the F Ⅸ gene of the propositi. Proband 1 had a G22119A mutation in exon 6, proband 2 a G7392C mutation in exon 2 and proband 3 a T32685C mutation in exon 8.
关键词
血友病B/凝血因子Ⅸ/短串联重复序列/基因突变Key words
Haemophilia B/Factor Ⅸ/Short tandem repeat/Mutation引用本文复制引用
出版年
2008
NETL
NSTL
维普
万方数据