京族儿童地中海贫血基因类型分析

Analysis of thalassemia gene types in Jing children

目的了解京族儿童地中海贫血基因类型及其分布特点。方法设置实验组京族儿童253名(京族组),对照组为其他民族儿童158名(非京族组)进行地中海贫血筛查,筛查阳性者再进行地中海贫血基因检测,两组进行对比分析。结果京族组地中海贫血携带率为20.16%(51/253);非京族组地中海贫血携带率为26.58%(42/158),两组地贫携带率相似;京族组α地贫基因携带者24例,占47.06%,以--^(SEA)/αα、-α^(3.7)/αα和-α^(4.2)/αα三种类型为主,β地中海贫血基因携带者25例,占49.02%,基因类型主要为41-42M/N、βEM/N和17M/N,α合并β地中海贫血2例,占3.92%,α地贫与β地贫阳性率之比为0.96∶1;非京族组α地贫基因携带者29例,占69.05%,基因类型主要为--^(SEA)/αα、-α^(3.7)/αα和-α^(4.2)/αα,β地中海贫血基因携带者12例,占28.57%,基因类型主要是41-42M/N、17M/N、-28M/N。α合并β地中海贫血1例,占2.38%,α地贫与β地贫阳性率之比为2.31∶1。结论京族儿童地中海贫血有较高的发生率,在同一地区京族儿童地贫的基因类型及分布特点有其民族特色。

Objective To understand the genetic types and distribution characteristics of thalassemia in Jing children.Methods A total of 253 Jing children were selected into an experimental group（Jing group）and 158 other ethnic children were selected into a control group（non-Jing group）,and all the children were screened for thalassemia,and the positives were tested for their thalassemia gene types,and the results of the two groups were compared.Results The thalassemia carrying rate in the Jing group was 20.16%（51/253）,the rate in the non-Jing group was 26.58%（42/158）,and the rate was similar in two groups.In the Jing group,there were 24 cases ofα-thalassemia gene carriers accounting for 47.06%,and of which,--^SEA/αα,-α^3.7/αα,and -α^4.2/αα were the most common types; there were 25 cases of β-thalassemia gene carriers accounting for 49.02%, and of which the most common types were 41-42M/N, βEM/N, and 17M/N; there were 2 cases of α-thalassemia combined with β-thalassemia gene carriers accounting for 3.92%; the ratio of the positive rates of α- and β-thalassemia was 0.96：1. In the non-Jing group, there were 29 cases of α-thalassemia gene carriers accounting for 69.05%, and of which,--^SEA/αα,-α^3.7/αα,and -α^4.2/αα were the most common types; there were 12 cases of β-thalassemia gene carriers accounting for 28.57%, and of which, the most common types were 41-42M/N, 17M/N, and -28M/N; there was one case of α-thalassemia combined with β-thalassemia gene carrier accounting for 2.38%; the ratio of the positive rates of α- and β-thalassemia was 2.31：1. Conclusion The Jing children have a higher incidence of thalassemia and the national characteristics in the thalassemia gene types and distribution in the same area.