用长距离PCR技术检测江西籍重型血友病甲_因子基因倒位基因.pdfVIP

∃ 10∃ 2009 17 11 PCR , , , , (广东省第二中医院, 广州 510095) : 目的 用长距离 PCR ( LD- PCR) 技术检测江西籍重型血友病 A ( hem ophiliaA, HA) 有无 因子 因倒位 方法 用 B igg s 一期法检测血浆凝血因子 F 活性 ( F : C), LD- PCR 方法, 以 06% 琼脂糖凝胶电泳技术, 检测 55例 江西籍重型 HA 进行凝血因子 ( F ) 倒位 因, 电泳出现 11k 带, 示 F 因倒位; 12k 带, 示非 F倒位, 这两条 带同时出现者为 F倒位 因携带者结果 检测 30例无亲缘关系的重型HA 患者中, 发现 11例患者 (或家属成员) 有 F 倒位 因, 占重型 HA 患者的 367% ; 9家系中查出 因倒位携带者 4名结论 LD- PCR技术结合血浆 F : C 可快 速准确检测重型血友病 F 因倒位 : 长距离 PCR ( LD- PCR); 血友病 A; 凝血因子 ; 因倒位 : R55411 : A : 1006- 9534 ( 2009) 11- 0010- 02 De tect oi n o f factor gene ni ve rs ion ni pa t ei nts w ith seve re hemoph ilia a carrie r in J iangx i prov ice by us ing long d is tanc e- PCR. MAO Jiang - hong, WAN G Q ing- shang, et al. (Departm ent of Labora tory, the Secon Ch ineseM e icine of Guang ong, Guangzhou 510095) Abst ract: O jective: Detection of Factor Gene Inversion among 30 patients w ith severe hemophilia A in Jiangxi provice y long d istance- PCR. M ethods: The plasm a coagu lation factor activity ( F : C) was detected y one- stage m ethod. long dis tance- PCR and 06% agarose gel electrophores is. The 11k and 12k ands ind icates a carrier the inversion . The results show ed that factor gene inversion and non inversion , respectively, Occurring of oth 11k and 12k ands ind icates a carrier of the inver sion. Resu lts: In 30 cases ofHA, 11w ere factor gene invers ion, wh ich accoun ted for a out 367% of total detected patients, 4 carrier of gene inversion were diagnosed from the m em ers in 9 fam ilies. Conclus ion: LD- PCR and F : C are rap id and accu ratem ethod for detecting factor gene inversion Key w ords: H em ophiliaA; Long distance- PCR; Factor ; Gene inversion ( hemoph ilia A, HA) A 30 ( F