海口地区2494例育龄夫妇地中海贫血基因检测结果分析  

Gene Detection Analysis of Thalassemia in 2 494 Cases of Childbearing Couples in Haikou City

作　　者：何金龙 符有桂[3] 闫玉兰 夏威夷 巫翠萍[2] 蒋洪敏[1] HE Jin-Long;FU You-Gui;YAN Yu-Lan;XIA Wei-Yi;WU Cui-Ping;JIANG Hong-Min(The Second Xiangya Hospital of Central South University,Changsha 410011,Hunan Province.China;Department of Clinical Laboratory,The First Affiliated Hospital of Hainan Medical College,Haikou 570102,Hainan Province,China;Department of Blood Transfusion,Hainan West Central Hospital,Danzhou 571700,Hainan Province,China)

机构地区：[1]中南大学湘雅二医院,湖南长沙410011 [2]海南医学院第一附属医院检验科,海南海口570102 [3]海南西部中心医院输血科,海南儋州571700

出　　处：《中国实验血液学杂志》2021年第5期1555-1560,共6页Journal of Experimental Hematology

摘　　要：目的:分析海口地区育龄夫妇地中海贫血(简称地贫)基因型和构成比,为本地区的地贫防控工作提供参考。方法:采用跨越断裂点PCR、PCR-反向点杂交及PCR-电泳法,对婚前或产前地贫筛查的2 494例被检者进行基因检测。结果:2 494例样本中共检出1 037例地贫基因携带者,检出率为41.57%,其中α-地贫、β-地贫及α-β复合型地贫分别占75.02%、18.61%及6.36%。α-地贫778例,以缺失型为主,占76.99%(599/778),共检出20种基因型,占比最高的依次是--^(SEA)/αα(33.42%,260/778)、-α^(3.7)/αα(23.91%,186/778)与-α4.2/αα(19.02%,148/778),发现1例由外省迁入的稀有型HKαα/-α^(3.7)。β-地贫193例,均为轻型(β0/βA或β+/βA),共检出8种基因型,占比最高的分别是41-42M/N(74.61%,144/193)与654M/N(10.36%,20/193)。α-β复合型地贫66例,共检出15种复合基因型,占比最高的3种依次是αα^(WS)/αα合并41-42M/N(28.79%,19/66)、-α3.7/αα合并41-42M/N与-α4.2/αα合并41-42M/N(均为16.67%,11/66)。结论:海口市育龄人群的地贫基因携带率较高,基因型分布与本省其他市县有一定差异,需注意人口流入对本地区地贫基因频谱改变的影响。Objective:To observe the genotypes and composition ratio of thalassemia in couples of reproductive age,and provide a reference for the prevention and control of thalassemia in Haikou.Methods:Gene diagnosis was performed in 2494 subjects who were screened for thalassemia before marriage or prenatal by cross-breakpoint PCR,PCR-reverse dot hybridization,and PCR-electrophoresis.Results:A total of 1037 thalassemia gene carriers were detected in 2494 samples,with a detection rate of 41.57%,of which 75.02%wasα-thalassemia,18.61%wasβ-thalassemia,and 6.36%wasα-βcomplex thalassemia.There were 778 cases ofα-thalassemia,mainly of deletion type,accounting for 76.99%(599/778).Twenty genotypes were detected,the highest three was--^(SEA)/αα(33.42%,260/778),-α^(3.7)/αα(23.91%,186/778),and-α^(4.2)/αα(19.02%,148/778),respectively.A rare HKαα/-α^(3.7) was detected,who immigrated from other province.There were 193 cases ofβ-thalassemia,all of them were light(β0/βA orβ+/βA).Eight genotypes were detected,the highest two was 41-42 M/N(74.61%,144/193)and 654 M/N(10.36%,20/193),respectively.There were 66 cases ofα-βcompound type of thalassemia,15 genotypes were detected,the highest three wasαα^(WS)/ααcomplex 41-42 M/N(28.79%,19/66),-α^(3.7)/ααcomplex 41-42 M/N,and-α^(4.2)/ααcomplex 41-42 M/N(16.67%,11/66 for both).Conclusion:In Haikou city,the gene carrying rate of thalassemia is very high,and the genotype distribution is different from other cities in Hainan Province,attention should be paid to the impact of population inflow on the frequency spectrum change of local thalassemia gene.

关 键 词：海口地区 育龄夫妇 地中海贫血 基因检测 

分 类 号：R556.61[医药卫生—血液循环系统疾病]