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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 understand the distribution of the mutant genes in β-globin a-thalassemia (β-thalassemia) in Han, Uygur, Kazak, Hui and Buyi ethnic groups in Shaanxi, Gansu and New China. Methods: Eighty - five patients with β - thalassemia in the “Silk Road” region were genotyped by polymerase chain reaction and allele - specific oligonucleotide probe hybridization (PCR / ASO). RESULTS: Seven mutations (12 genotypes) were detected in 85 patients. β-thalassemia major anemia codon 17 / N is predominantly present in Han population; IVS- 2 - 65 4 / N, -2 8 / N, codons 4 1- 4 2 / N and -2 8 codon 17 / N was detected in the Han nationality, but also from the Hui, Kazak, Uygur and Buyi, respectively, of which -28 · codon 17 / N is a double mutation in the same chromosome gene, the literature did not See reports; while codon 8 / N and codon 8-9 / N were detected only from Uighurs, the first discovery in Chinese. Conclusion: β-globin aplastic anemia in Shaanxi, Gansu and Xinhai areas has significant ethnic characteristics and is a special distribution area of thalassemia in China.