保山市育龄人群地中海贫血基因诊断结果分析

Analysis of Genetic Diagnosis Results for Thalassemia in Childbearing Age Population in Baoshan City

目的了解云南省保山市育龄人群地中海贫血基因携带情况。方法利用高通量测序技术对874例样本进行α-地贫及β-地贫检测,统计分析人群分布特征。结果874例样本中检出地贫基因阳性样本251例,地贫基因的人群阳性率为28.72%(251/874);α-地贫基因阳性样本140例,阳性率为16.02%(140/874),以基因突变类型αα/-α^(3.7)为主;β-地贫阳性样本95例,阳性率为10.87%(95/874),以基因型CD26为主;αβ-复合型地贫基因阳性样本16例,阳性率为1.83%(16/874);汉族人群和少数民族人群地贫携带差异性比较差异具有统计学意义(P<0.01)。此外另检出α-珠蛋白基因三联体阳性率为1.49%(13/874),以基因型ααα^(anti3.7)为主。结论保山市是地贫高发地区,地中海贫血阳性率较高,最为常见的突变类型是αα/-α^(3.7)和CD26。研究对保山地区地贫防控、临床遗传咨询工作提供了一定的理论依据。

Objective To investigate the gene-carrying rate of thalassemia in the population of Baoshan.Methods A total of 874 samples wereα-thalassemia andβ-thalassemia detected by NGS,and the ethnic characteristics of the population were statistically analyzed.Results There were 251 cases of positive thalassemia gene,accounting for 28.72%(251/874).There were 140α-thalassemia carriers,with a positive rate of 16.02%(140/874).The most common gene mutation type wasαα/-α^(3.7).There were 95β-thalassemia carriers,with a positive rate of 10.87%(95/874).The most common gene mutation type was CD26.There were 16α-andβ-thalassemia compound carriers,with a positive rate of 1.83%(16/874);Comparison of the differences between Han and Ethnic populations in thalassemia carry(P<0.01)was statistically significant.There were 13α-globin gene triplet carriers,with a positive rate of 1.49%(13/874).The most common gene mutation type wasααα^(anti3.7).Conclusions Baoshan region population has a high thalassemia carrier frequency.The most common gene mutation type wasαα/-α^(3.7)and CD26.This study provides theoretical support for thalassemia prevention and control as well as clinical genetic counseling in the Baoshan region.