95例黎族的β—地中海贫血基因类型分析

95 Cases of Mutation Genotype β—Thalassemia in Li Minority Nationality

本文对海南岛黎族学生1726人进行普查,采用红细胞脆性试验阳性和血红蛋白A_2增高两项指标,筛选出β—地中海贫血对象149人,占调查总人数8.6％。随机对其中95例采用PCR扩增技术与ASO探针杂交法,应用7对寡核苷酸探针B—地中海盆血CD41/42.CD17.—28.—29CD43.CD71/72和ⅣS—Ⅱ654)分析突变基因类型。其结果:β—地贫CD41/42(—TCTT)基因型杂合子90例,占基因分析总例数94.7％,—28(A→G)基因型杂合子1例,其余4例尚未清楚。根据上述分析结果,笔者认为海南岛纯系黎族人群中β—地中海贫血病的基因类型为β—地贫CD41/42(—TCTT)。这一研究结果能为黎族优生和开展β—地贫产前基因诊断提供了依据。

Among 1721 people, 149 cases of β—thalassemia were screened out from Li minority in Hainan Island of China by means of two methods, the positive reaction of the qualitative osmostic fragility test and the elevation of the Hb A_2(>3.5％). The percentage of the case is 8. 6. In thee 149 cases, 95 samples randomly Chosen, their mutation genotypes were analysed by PCR—ASO method. Seven pieces of ASO probes were used, they were: β~T—CD 41/42, CD 17, —28, —29, CD43, CD71/72and IVS—Ⅱ654. The genotype of 90 cases were heterozygotes of β—thalassemia(β~T—CD 41/42, —TCTT), about 94.7％, one β—thalassemia genotype(—28, A—G)heterozygote genotype, four unidentified. On the basis of above results, author concluded that the majority of the mutation genotype of β—thalassemia in Li minority is β~T—CD 41/42(—TCTT).