高通量测序技术在珠海地区产前地贫筛查中的应用  

Application of high-throughput sequencing technology in prenatal thalassemia screening in Zhuhai region

作　　者：潘丽[1] 苏文[2] 陈咏梅 林道彬[1] Pan Li;Su Wen;Chen Yongmei;Lin Daobin(Prenatal Diagnosis Center,Zhuhai Maternal and Child Health Care Hospital,Zhuhai,Guangdong 519001,China;Institute of Laboratory Medicine/Genetics,Zhuhai Maternal and Child Health Care Hospital,Zhuhai,Guangdong 519001,China;Department of Obstetrics,Zhuhai Maternal and Child Health Care Hospital,Zhuhai,Guangdong 519001,China)

机构地区：[1]珠海市妇幼保健院产前诊断中心,广东519001 [2]珠海市妇幼保健院检验科/遗传所,广东519001 [3]珠海市妇幼保健院产科,广东519001

出　　处：《中华医学遗传学杂志》2022年第8期824-828,共5页Chinese Journal of Medical Genetics

基　　金：珠海市医疗卫生科技计划重大项目 (20171009F060003)。

摘　　要：目的对比传统方法评估高通量测序技术在珠海地区产前地贫筛查中的性能暨价值。方法随机选择1463例珠海籍孕妇作为研究对象,抽取外周血样,分别进行高通量测序和传统三步法地贫基因检测,对差异样本进行QF-PCR或Sanger验证。比较分析两种方法的检出及漏诊情况。结果在1463例孕妇中,传统法检出地贫318例(21.74%),包括α地贫210例(14.35%),β地贫97例(6.63%),α复合β地贫11例(0.75%)。高通量测序法检出地贫379例(25.91%),包括α地贫260例(17.77%),β地贫107例(7.31%),α复合β地贫12例(0.82%)。传统法漏诊地贫61例,漏诊率为16.09%(61/379),包括50例α地贫,10例β地贫,1例α复合β地贫。高通量测序法暂未发现漏诊,并额外检出10种罕见的地贫基因型。结论高通量测序能够提高地贫的检出率、降低漏诊率,在珠海地区产前地贫筛查中具有较高的应用价值,能更有效地预防重型地贫儿的出生。Objective To compare the performance of high-throughput sequencing technology in prenatal thalassemia screening in Zhuhai area through comparison with traditional methods.Methods A total of 1463 pregnant women were randomly selected.Following DNA extraction,high-throughput sequencing and conventional three-step thalassemia screening were carried out for each sample.Inconsistent results samples were validated by quantitative fluorescence PCR(QF-PCR)or Sanger sequencing.The results by the two methods were compared.Results Among the 1463 cases,318(21.74%)were detected by conventional method,which included 210(14.35%)withα-thalassemia,97(6.63%)withβ-thalassemia,11(0.75%)with compositeα-andβ-thalassemia.Meanwhile,379 cases(25.91%)of thalassemia were detected by high-throughput sequencing,which included 260(17.77%)withα-thalassemia,107(7.31%)withβ-thalassemia,12(0.82%)with compositeα-andβ-thalassemia.Six one cases were missed by the conventional method,which yielded a missed diagnosis rate of 16.09%,including 50 cases ofα-thalassemia,10 cases ofβ-thalassemia,and 1 case ofα-compoundβ-thalassemia.No cases of thalassemia were missed by high-throughput sequencing,and 10 rare thalassemia genotypes were detected.Conclusion High-throughput sequencing technology can improve the detection rate of thalassemia and reduce the missed diagnosis rate.It has a high application value in prenatal thalassemia screening in Zhuhai area and can more effectively prevent the birth of patients with severe thalassemia.

关 键 词：地中海贫血 产前筛查 高通量测序技术 预防医学 

分 类 号：R714.254[医药卫生—妇产科学]