我国陕、甘、新地区β珠蛋白生成障碍性贫血的民族分布特点——附85例分析

The distributive feacture of nationality of β-thalassemia in Chinese districts of Shaanxi、Gansu、Xinjiang

目的 :了解陕、甘、新地区汉、维吾尔、哈萨克、回、布依族中 β珠蛋白生成障碍性贫血(β地中海贫血 )的突变基因分布情况。方法 :采用聚合酶链反应结合等位基因特异性寡核苷酸探针点杂交 (PCR/ ASO)技术 ,对“丝绸之路”地区 85例β珠蛋白生成障碍性贫血患者进行基因分析。结果 :从 85例患者中共检出 7种突变类型 (共 12种基因型 )。β珠蛋白生成障碍性贫血密码子 17/ N主要存在于汉族中 ;IVS- 2 - 65 4 / N、 - 2 8/ N、密码子 4 1- 4 2 / N和 - 2 8·密码子 17/ N除从汉族中检出外 ,还分别自回族、哈萨克族、维吾尔族和布依族中检出 ,其中 - 2 8·密码子 17/ N为同一条染色体上基因的双重突变 ,文献中未见报道 ;而密码子 8/ N和密码子 8- 9/ N则仅从维吾尔族中检出 ,在中国人中系首次发现。结论 :陕、甘、新地区 β珠蛋白生成障碍性贫血具有显著的民族特征 ,是我国一个较为特殊的珠蛋白生成障碍性贫血分布区域。

Objective:To study the distributive feacture of gene mutations of β -thalassemia in Chinese districts of Shaaxi? Gansu? Xinjiang,including Han, Uygur,Kazak,Hui,Buyi,and other nationalities Methods:By using polymerase chain reaction in combination with dot-blot hybridization of allele-specific oligonucleotide probes(PCR-ASO),gene mutations were analysed in 85 cases of β-thalassemia Results:Twelve mutation types were found β-thalassemia CD17/N(A→T) was mainly present in Han nationality IVS-2-654/N(C→T),-28/N(A→G),CD41-42/N(-TTCT)and [-28(A→G) CD17(A→T)/N] were found in Hui,Kazak,Uygur and Buyi nationality besides of Han,of which [-28(A→G) CD17(A→T)/N] are double mutation genes in the same chromosome This has not been reported in the literature before And for the first time in Chinese,CD8/N(-AA)and CD8-9/N(+G) were only found in Uygur nationality Conclusion:The study shows that β-thalassemia in the Shaanxi?Gansu?Xinjiang is of distinct national feacture and it is a unique distributive area of thalassemia in China