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目的了解海南省南部地区(琼南地区)汉族和黎族小细胞性贫血个体地中海贫血(地贫)检出率及基因型分布情况。方法对琼南地区体检者中平均红细胞体积(MCV)<82 fl的汉、黎两民族个体,采用Gap-PCR方法和PCR-反向斑点杂交(PCR-RDB)技术进行α-、β珠蛋白突变基因检测,统计分析2民族小细胞性贫血个体地贫的检出率及珠蛋白基因突变情况。结果共调查小细胞性贫血个体1 434例,包括汉族808例(56.35%),黎族626例(43.65%);α-地贫、β-地贫及α/β复合型地贫检出率在汉族个体依次为39.11%、10.15%及2.48%,而在黎族个体依次为59.11%、14.06%、12.94%,3者检出率黎族均明显高于汉族(χ2分别为56.522、5.158及58.991,均为P<0.05);汉、黎2民族α-地贫基因均以缺失型为主,并以-α3.7/αα及-α4.2/αα最为常见,等位基因-α3.7、-α4.2及--SEA构成比,在汉族个体分别为31.88%、32.85%及27.30%,在黎族个体分别为41.22%、41.29%及10.99%;共检出9种β-地贫点突变,汉族个体以CD41-42为主(43.12%),βIVS-II-654(18.35%)及CD17(12.85%)次之,而黎族个体CD41-42高达89.89%,其它突变较为罕见。结论琼南地区地贫高发,进一步加大本地区地贫防控知识宣教力度,引导人们做好地贫筛查及产前诊断十分必要。
Objective To investigate the prevalence and distribution of thalassemia (thalassemia) in Han and Li-Minority AML patients in southern Hainan (Hainan Province). Methods The individuals of Han and Li ethnic groups with mean corpuscular volume (MCV) <82 fl in the Qiongnan region were detected by Gap-PCR and PCR-RDB (dot-blot hybridization) Mutation gene detection, statistical analysis of 2 individuals with thalassemia anemia detection rate of thalassemia and globin gene mutation. Results A total of 1 434 individuals with small cell anemia were investigated, including 808 (56.35%) Han and 626 (43.65%) Li people. The detection rates of α-thalassemia, β-thalassemia and α / The Han individuals were 39.11%, 10.15% and 2.48% in turn, while those in Li nationality were 59.11%, 14.06% and 12.94% respectively. The detection rates of the three were significantly higher than Han (χ2 = 56.522, 5.158 and 58.991, respectively) (P <0.05). The α-thalassemia genes of Han and Li nationality were mainly deletional type, the most common was -α3.7 / αα and -α4.2 / αα, allele-α3.7, α4.2 and --SEA, respectively, were 31.88%, 32.85% and 27.30% respectively in Han nationality, 41.22%, 41.29% and 10.99% in Li nationality respectively. Nine kinds of β-thalassemia mutations were detected, Han individuals were predominantly CD41-42 (43.12%), followed by βIVS-II-654 (18.35%) and CD17 (12.85%), while CD41-42 was as high as 89.89% in Han individuals. Other mutations were rare. Conclusion The incidence of thalassemia in the southern region of Hainan Province is still high, so it is necessary to further increase the awareness of prevention and control of thalassemia, and to guide people in screening and prenatal diagnosis of thalassemia.