摘要
目的了解在佛山地区孕妇地中海贫血基因类型和分布特征。方法采集1005例孕妇血样,测定平均红细胞体积(MCV)、平均红细胞血红蛋白(MCH)和血红蛋白A2(Hb A2),应用高通量测序(NGS)技术进行地中海贫血基因筛查。结果血液初筛表型阳性的178孕妇中,检出地中海贫血基因突变的有121例,携带率12.04%(121/1005);血表型阴性的检出地中海贫血基因29例,漏诊率2.89%(29/1005)。孕妇地中海贫血基因携带率14.93%(150/1005),α地中海贫血基因122例携带率12.14%(122/1005)、β地中海贫血基因28例携带率2.79%(28/1005),α地中海贫血有15种类型,--^(SEA)/αα、-α^(3.7)/αα、-α^(4.2)/αα和α^(WS)α/αα占总数的81.15%(99/122),新发现HBA1基因有2种8例,HBA2基因有5种7例;β地中海贫血有9种类型,CD41-42和IVS-II-654占总数的60.71%(17/28),新发现HBB基因有2种2例。结论佛山地区孕妇地贫基因类型多、携带率高,存在新的突变基因,利用高通量测序技术准确、检测面广的优势,可检测到不常见的地贫基因和新发突变,减少漏诊,对科学指导优生优育具有重要意义。
Objective： To explore the genotype and composition of thalassemia among pregnant women in Foshan area. Methods： 1005 cases were screened by routine blood screening （including MCV, MCH and HbA2） , and all cases were screened by using next-generation sequencing （NGS） . Results： Among 178 pregnant women with positive hematological phenotype and 827 pregnant women with negative hematological phenotype, 121 and 29 cases of thalassemia gene carriers were detected respectively.The rate of missed diagnosis of thalassemia for 1005 cases were 2.89% （29/1005） . In 1005 cases, 150 cases were diagnosed definitely by NGS, including 122 α-thalassemia and 28 β--thalassemia. All cases carrying rate of thalassemia gene were 14.93% （150/1005） , and the carrying rate of arthalassemia and β-thalassemia were 12.14% （122/1005） and 2.79% （28/1005） respectively. --SEA/αα, -- α3.7/αα, -- α4.2/α and α ws α/α α were main genotype of α-thalassemia, accounting for 81.15% （99/122） . CD41-42and IVS-II-654 were main genotype of β-thalassemia, accounting for 60.71% （17/28） .The new gene mutation were found by NGS, and the genotype of HBA1, HBA2 and HBB were 2 type, 5 type and 2 type respectively. Conclusion： The genotype of thalassemia among pregnant women in Foshan area is highly heterogenic, there maybe exist new mutation of thalassemia.It was important for good prenatal and postnatal care to find new mutation of thalassemia and reduce the rate of missed diagnosis of thalassemia by using NGS.
出处
《中国优生与遗传杂志》
2017年第6期17-19,共3页
Chinese Journal of Birth Health & Heredity
基金
佛山市医学类科技攻关项目(项目编号:2015AB00386)
关键词
地中海贫血
高通量测序
孕妇
基因筛查
Thalassemia
Next-generation sequencing technology
Pregnant women
Genetic screening
