广西医科大学学报2013，Vol.30Issue(1)：48-52,5.
3个血友病B家系患者与携带者的基因诊断
GENE DIAGNOSIS FOR THE PATIENTS AND CARRIERS IN THREE PEDIGREES WITH HAEMOPHILIA B
摘要
Abstract
Objective:To identify and diagnose the mutations of coagulation factor Ⅸ gene for the patients and probable carriers in three unrelated pedigrees with haemophilia B, in order to establish pedigree chart, and provide criterion of genetic counseling or prenatal consultation for other family members. Methods: Subjects' DNA was extracted. Eight coding exons of FⅨ gene in the three family members were amplified by PCR, then sequenced by sanger dideoxy chain-termination method. The results were analysed. Results: Three mutations of FⅨ gene were detected in the probands: the proband's gene mutation of the NO. 1 pedigree in exon 5:22724dell (Alal 64GInfsX10) , the proband's gene mutation of the NO. 2 pedigree in exon 6:25510_255Mdel5 (Gly236Ilefs X6) , the proband's gene mutation of the NO. 3 pedigree in exon 7:35068 _35070 del3 (V263del) , these mutations were all unreported. There were one carrier be found in NO. 3 pedigree, the type was same as the proband of the NO. 3 pedigree. Conclusion: The genetic diagnosis established pedigree chart for the three pedigrees, the results not only complemented the haemophilia B mutation database, but also provided the molecular basis for the pathogenesis.关键词
血友病B/凝血因子Ⅸ/突变Key words
haemophilia B/ coagulation factor Ⅸ / mutations分类
医药卫生引用本文复制引用
蒋雪雯,韦红英,刘壮..3个血友病B家系患者与携带者的基因诊断[J].广西医科大学学报,2013,30(1):48-52,5.基金项目
广西自然科学基金资助项目(No.桂科青0728070) （No.桂科青0728070）
