海南省三亚市汉族人群地中海贫血的研究

Study on Thalassemia in Han Population in Sanya of Hainan Province

目的:研究海南省三亚市汉族人群地中海贫血基因型的分布特征。方法:采用缺口PCR技术和反向斑点杂交法对572例三亚市汉族疑似地中海贫血携带者进行地中海贫血基因的检测和分析。结果:在572例三亚市汉族人群中,共检出271例地中海贫血,其中有161例α地中海贫血患者,共9种基因型,按检出率从高至低依次为--^(SEA)/αα,-α^(3.7)/αα,-α^(4.2)/αα,--^(SEA)/-α^(3.7),--^(SEA)/-α^(4.2),-α^(4.2)/-α^(4.2),-α^(3.7)/-α^(4.2),-α^(3.7)/-α^(3.7),--^(SEA)/--^(SEA)。其中,东南亚缺失型(--^(SEA)/αα)最常见,为66例。检出99例β地中海贫血患者,共7种基因型,均为杂合子,根据检出率由高至低依次为CD41-42/βN、IVS-II-654/βN、CD17/βN、CD71-72/βN、-28/βN、-29/βN、CD27-28/βN。其中,CD41-42/βN基因型检出最多,有51例。另外检出11例α和β复合型地中海贫血患者,涉及5种基因型,检出率由高至低依次为-α^(3.7)/αα合并CD41-42/βN,--^(SEA)/αα合并IVS-II-654/βN,-α^(4.2)/-α^(4.2)合并CD41-42/βN,-α^(4.2)/αα合并-29/βN,--^(SEA)/-α^(4.2)合并CD41-42/βN。结论:海南省三亚市汉族人群为地中海贫血的高发人群,基因型特点有别于我国其他地中海贫血高发区,α地中海贫血以东南亚缺失型(--^(SEA)/αα)为主,β地中海贫血以CD41-42杂合子突变为主。

Objective:To study the distribution characteristics of thalassemia genotype in Han Population in Sanya of Hainan Province.Methods:Gap PCR and reverse dot hybridization were used to detect and analyze the thalassemia gene in 572 suspected thalassemia carriers of Han Population in Sanya.Results:Among the 572 Han Population in Sanya,271 cases of thalassemia gene abnormality were detected,among which 161 cases were founded to be carriers ofα-thalassemia gene.A total of 9 genotypes were detected,in the following order of the detection rate was--^(SEA)/αα,-α^(3.7)/αα,-α^(4.2)/αα,--^(SEA)/-α^(3.7),--^(SEA)/-α^(4.2),-α^(4.2)/-α^(4.2),-α^(3.7)/-α^(4.2),-α^(3.7)/-α^(3.7),--^(SEA)/--^(SEA).Among them,the deletion type(--^(SEA)/αα)in southeast Asia was the most common,accounting for 66 cases.99 cases ofβ-thalassemia were detected,there were 7 genotypes,all of which were heterozygous.The order of the detection rate was CD41-42/βN,IVS-Ⅱ-654/βN,CD17/βN,CD71-72/βN,-28/βN,-29/βN,CD27-28/βN.Among them,CD41-42/βN was the most common,accounting for 51 cases.In addition,11 cases of combinedαandβthalassemia were detected.Five kinds of genotypes were checked out,the order of detection rate was-α^(3.7)/ααcomposite CD41-42/βN,--^(SEA)/ααcomposite IVS-Ⅱ-654/βN,-α^(4.2)/-α^(4.2) composite CD41-42/βN,-α^(4.2)/ααcomposite-29/βN,--^(SEA)/-α^(4.2) composite CD41-42/βN.Conclusion:Han Population in Sanya of Hainan Province is a high-risk population of thalassemia,the genotype characteristics are different from other areas with high incidence of thalassemia in China.The main type ofα-thalassemia is the deficiency mutation of southeast Asia,while CD41-42 heterozygous mutation is the main type ofβ-thalassemia.