摘要
目的分析阳江地区地中海贫血的基因突变谱,有助于更准确开展本地区地贫产前诊断和遗传咨询。方法选取2018年1月至2020年12月在阳江市妇幼保健院送检的10163例地贫基因检测样本,采用反向斑点杂交(RDB)技术和Gap⁃PCR方法分析阳江地区地中海贫血的基因突变类型。结果10163例检测的样本中,检测出地贫基因突变4538例(44.65%)。其中α地贫3274例(32.21%)和β地贫1077例(10.60%),α和β复合地贫187例(1.84%)。检出21种α地贫基因突变类型,最常见为⁃⁃SEA/αα(59.10%),其次是⁃α3.7/αα(20%)、⁃α4.2/αα(8%)、αWSα/αα(3.57%)、αCSα/αα(3.48%)、αQSα/αα(2.57%),以上6种单基因型占α地贫基因型的96.72%。双重杂合子95例(2.92%),常见为⁃⁃SEA/⁃α3.7(1.43%),纯合子12例(0.36%)。检出15种β地贫基因类型,其中含杂合子12种基因型,双重杂合子2例(2种基因型),1例纯合子CD17/CD17。β地贫基因突变类型最常见为CD41⁃42(41.87%),其次是IVS⁃II⁃654(21.82%)、⁃28(16.80%)、CD17(8.36%)和CD71⁃72(3.99%),共占92.84%。检出187例α复合β地贫,基因突变频率最高为⁃⁃SEA/αα/CD41⁃42(48例,25.67%),其次为⁃SEA/αα/⁃28(18例,9.62%)、⁃⁃SEA/αα/IVS⁃II⁃654(16例,8.56%)、⁃α3.7/αα/CD41⁃42(12例,6.42%)、⁃α3.7/αα/IVS⁃II⁃654(10例,5.35%)。11例有三种突变复合的基因类型,获得7例病人的血常规数据,年龄10~52岁,其中6例有⁃⁃SEA基因突变。检测血常规发现MCV都低于70 fl,血红蛋白浓度大部分低于90 g/L,最低61 g/L,最高120 g/L。结论阳江地区地中海贫血基因突变具有区域性特征,本研究数据可为基因诊断遗传咨询提供参考。
Objective To analyze the gene mutation spectrum of thalassemia in Yangjiang area,to carry out prenatal diagnosis and genetic counseling of thalassemia more accurately.Methods Reverse dot blot(RDB)and Gap⁃PCR were used to analyze the mutation types of thalassemia gene in Yangjiang.Results Among the 10163 tested samples,4538 cases(44.65%)of thalassemia gene mutations were detected.Among them,there were 3274 cases(32.21%)wereα⁃thalassemia,1077 cases(10.60%)wereβ⁃thalassemia,and 187 cases(1.84%)wereα⁃andβ⁃thalassemia.21 types ofα⁃thalassemia gene mutations were detected,the most common was⁃⁃SEA/αα(59.10%),followed by⁃α3.7/αα(20%),⁃α4.2/αα(8%),αWSα/αα(3.57%),αCSα/αα(3.48%),andαQSα/αα(2.57%),the above six genotypes accounted for 96.72%ofα⁃thalassemia genotypes.There were 95 cases of compound heterozygotes(2.92%),the most common was⁃⁃SEA/⁃α3.7(1.43%),and 12 cases of homozygotes(0.36%).Fifteenβ⁃thalassemia genotypes were detected,including 12 heterozygous genotypes,2 compound heterozygotes(2 genotypes),and 1 homozygous CD17/CD17.The most common type ofβ⁃thalassemia gene mutation was CD41⁃42(41.87%),followed by IVS⁃II⁃654(21.82%),⁃28(16.80%),CD17(8.36%)and CD71⁃72(3.99%),accounted for 92.84%ofβ⁃thalassemia genotypes.187 cases ofα⁃plusβ⁃thalassemia were detected,the highest gene mutation frequency was⁃⁃SEA/αα/CD41⁃42(48 cases,25.67%),followed by⁃⁃SEA/αα/⁃28(18 cases,9.62%),⁃⁃SEA/αα/IVS⁃II⁃654(16 cases,8.56%),⁃α3.7/αα/CD41⁃42(12 cases,6.42%),⁃α3.7/αα/IVS⁃II⁃654(10 cases,5.35%).There were 11 cases with gene types combined with three mutations.The blood routine data of 7 patients were obtained,aged 10 to 52 years,and 6 of them had⁃⁃SEA gene mutation.Blood routine testing found that MCV was lower than 70 fl,most of the hemoglobin concentrations were lower than 90 g/L,the lowest was 61 g/L,and the highest was 120 g/L.Conclusion The genetic mutation of thalassemia in Yangjiang area has regional characteristics,and the data of this study can provide reference for prenatal counseling and genetic diagnosis.
作者
梁伟敏
谢文光
刘莉莉
杨立业
LIANG Weiming;XIE Wenguang;LIU Lili;YANG Liye(Clinical Laboratory,Yangjiang Maternal and Child Health Care Hospital,Yangjiang,Guangdong,China,529500;Precision Medicine Laboratory Center,the People's Hospital of Yangjiang,Yangjiang,Guangdong,China,529500)
出处
《分子诊断与治疗杂志》
2023年第5期829-833,共5页
Journal of Molecular Diagnostics and Therapy
基金
阳江市人民医院高水平医院建设项目(G2020007)。
