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目的:为了研究中国西北地区血友病B(HB)患者的FⅨ基因的突变谱的特征,建立最优化的分子诊断策略和找出基因型-表型的相互关系。方法:受试者包括3个中国西北地区无亲缘关系的血友病B患者,APTT和FⅨ:C用来进行表型诊断;利用聚合酶链反应(PCR)扩增和直接测序F9基因的全部外显子和侧翼序列。结果:总共有3个不同的突变被检测到,(突变检测率达到了100%)1号患者有外显子2点突变(A→C);2号患者有外显子8点突变(G→A);3号有外显子2点突变(C/T型)。结论:通过对3名中国西部地区血友病B患者的结果分析显示,其没有突变热点;直接测序所有的外显子和侧翼序列被认为是血友病B患者诊断的金标准;突变类型和基因缺失的严重程度的基因型-表型的相关性并不一致。
OBJECTIVE: To investigate the characteristics of the mutation spectrum of FIX gene in patients with hemophilia B (HB) in northwestern China and to establish an optimal molecular diagnostic strategy and find out the relationship between genotype and phenotype. METHODS: Subjects included 3 unrelated patients with hemophilia B in northwestern China. APTT and F Ⅸ: C were used for phenotypic diagnosis. All of the F9 genes were amplified by polymerase chain reaction (PCR) and sequenced directly Exon and flanking sequences. RESULTS: A total of 3 different mutations were detected (mutation detection rate of 100%) in exon 2 patients with a 2-point mutation (A → C); patient 2 had an exon 8 point mutation (G → A); 3 has exon 2 point mutation (C / T type). Conclusions: The results of 3 hemophilia B patients in western China show no mutation hot spots; direct sequencing of all exons and flanking sequences is considered the gold standard for the diagnosis of hemophilia B; the type of mutation and The genotype-gene association of the severity of the gene loss is not consistent.