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目的探讨中国汉族无关血友病B家系先证者的凝血因子Ⅸ基因的突变和发病的分子机制。方法对19例中国汉族无关血友病B家系先证者,静脉采集各家系先证者外周血,表型诊断确诊后,用PCR对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19例血友病B家系先证者均检测到相应的基因序列的改变。结论19例中国汉族无亲缘关系的血友病B家系先证者FIX基因在编码外显子的核苷酸部位均发现有基因突变,其中发现五种新的突变,即6444T→A(Cys23Stop);10497G→C(Cys82Ser);31101G→T(Arg327Ile);31102InsertT;30984T→G(Ile288Ser)为国际上首次报道。
Objective To investigate the molecular mechanisms of the mutation and pathogenesis of coagulation factor Ⅸ gene in Chinese Han Han people with unrelated hemophilia B family. Methods Peripheral blood samples of 19 probands with hemophilia B in Chinese Han who were not related to hemophilia were collected. The peripheral blood samples of probands from each pedigree were collected. After phenotypic diagnosis was confirmed, the exons and their flanking sequences of FIX8 were amplified by PCR. Nucleotide sequences were detected by end-labeling dideoxy method. Results 19 cases of hemophilia B family probands were detected in the corresponding gene sequence changes. Conclusions FIX gene of 19 Chinese Han unrelated relatives of hemophilia B pedigree was found to have mutations in the nucleotide sequence encoding exon. Among them, five new mutations were found, namely 6444T → A (Cys23Stop) ; 10497G → C (Cys82Ser); 31101G → T (Arg327Ile); 31102InsertT; 30984T → G (Ile288Ser) is the first reported in the world.