HKαα和anti-HKαα基因型珠蛋白生成障碍性贫血的基因检测分析  

Gene detection analysis of HKααand anti-HKααgenotypes thalassemia

作　　者：刘沃满 唐玉芬[1] 李祝坤 谭满胜 聂俊玮[1] LIU Woman;TANG Yufen;LI Zhukun;TAN Mansheng;Nie Junwei(Center for Genetic Eugenics,Maoming Municipal Maternal and Child Health Care Hospital,Maoming,Guangdong 525000,China)

机构地区：[1]广东省茂名市妇幼保健院遗传优生优育中心,广东茂名525000

出　　处：《检验医学与临床》2020年第20期2992-2994,共3页Laboratory Medicine and Clinic

摘　　要：目的对HKαα和anti-HKαα基因型珠蛋白生成障碍性贫血(简称地贫)病例进行基因检测,分析HKαα和anti-HKαα基因型病例的临床表型,为产前诊断和遗传咨询提供指导。方法对36031例样本进行常规地贫基因检测,应用巢式PCR技术对17例跨越断裂点PCR(gap-PCR)电泳同时出现α2、-α3.7/-α4.2和--SEA,4例-α3.7条带比α2条带细弱及1例-α4.2条带比α2条带细弱的样本进行HKαα和anti-HKαα基因型检测。结果在36031例样本中,共检测到20例HKαα和2例anti-HKαα基因型病例,其中3例HKαα/αα,1例HKαα/αα同时复合IVS-Ⅱ-654杂合子,3例HKαα/-α4.2,12例HKαα/--SEA,1例HKαα/--SEA同时复合CD41-42杂合子,1例anti-HKαα/αα,1例anti-HKαα/--SEA。HKαα与anti-HKαα检出率分别为0.056%和0.005%,且存在1个HKαα/--SEA家系和1个anti-HKαα/--SEA家系。结论HKαα或anti-HKαα基因型地贫的准确诊断对罕见α-地贫基因的筛查和产前遗传咨询具有非常重要的意义,避免了不必要的创伤性产前诊断。Objective To conduct the gene detection in the cases of HKααand anti-HKααgenotype thalassemia,and to analyze the clinical phenotype of HKααand anti-HKααgenotype cases so as to provide the guidance for clinical prenatal diagnosis and genetic counseling.Methods A total of 36031 samples were conducted the routine thalassemia gene detection.The nest PCR technique was used to conduct the genotype detection on 17 samples simultaneously appearingα2,-α3.7/-α4.2 and--SEA by crossing the break point PCR(gap-PCR)electrophoresis,4 samples with-α3.7 band thinner thanα2 band and 1 sample with-α4.2 band thinner thanα2 band.Results In 36031 samples,20 cases of HKααgenotype and 2 cases of anti-HKααgenotype were detected,including 3 cases of HKαα/αα,1 case of simultaneous compound IVS-Ⅱ-654 heterozygote of HKαα/αα,3 cases of HKαα/-α4.2,12 cases of HKαα/--SEA,1 case of simultaneous compound CD41-42 heterozygote of HKαα/--SEA,1 case of anti-HKαα/αα,and 1 case of anti-HKαα/--SEA.The detection rates of HKααand anti-HKααwere 0.056%and 0.005%respectively,moreover there were one family of HKαα/--SEA and one family of anti-HKαα/--SEA.Conclusion The accurate diagnosis of HKααor anti-HKααgenotype thalassemia has the very important significance for screening rareαthalassemia genes and prenatal genetic counseling,which avoids unnecessary invasive prenatal diagnosis.

关 键 词：珠蛋白生成障碍性贫血 HKαα anti-HKαα 

分 类 号：R556.6[医药卫生—血液循环系统疾病]