1例罕见β珠蛋白基因复合杂合突变的产前诊断  

Prenatal diagnosis of a rare compound heterozygous mutation in theβ-globin gene

作　　者：刘语新 沈婷 吴寒松 阳仕雄 张宇姿 LIU Yuxin;SHEN Ting;WU Hansong;YANG Shixiong;ZHANG Yuzi(Department of Central Laboratory,the Central Hospital of Xiaogan,Xiaogan,Hubei 432100,China;Gastrointestinal Surgery,the Central Hospital of Xiaogan,Xiaogan,Hubei 432100,China)

机构地区：[1]孝感市中心医院中心实验室,湖北孝感432100 [2]孝感市中心医院胃肠外科,湖北孝感432100

出　　处：《中国优生与遗传杂志》2025年第1期183-185,共3页Chinese Journal of Birth Health & Heredity

基　　金：2024年度湖北儿科联盟医学科研项目(HPAMRP 202413)。

摘　　要：目的在产前筛查时发现一对夫妇均为β-地中海贫血携带者,同时鉴定出一种在中国人群中罕见报道的β-珠蛋白基因突变3′-UTR+132(C>T),并对胎儿进行产前诊断基因分析。方法应用血常规和血红蛋白电泳进行地中海贫血初筛,采用高通量测序技术对夫妇外周血和胎儿羊水基因组DNA的α+β珠蛋白基因突变进行分子诊断,并应用Sanger测序对基因突变进行验证。结果孕妇携带IVS-Ⅱ-654(C>T)β^(+)杂合突变,表现轻度贫血;其丈夫携带一种罕见β-珠蛋白基因3′-UTR+132(C>T)杂合突变,无贫血症状。经产前诊断,胎儿同时遗传到双亲的β-珠蛋白基因突变位点,基因型为β^(IVS-Ⅱ-654(C>T))/β^(3′-UTR+132(C>T))。结论β-珠蛋白基因3′-UTR+132位点突变较罕见,携带者通常为沉默表型(β^(++)),当同时携带其他类型β-地贫突变(β^(0)/β^(+))时则可能有中间型地贫的临床表现,对于指导遗传咨询和产前基因诊断有重要价值。Objective Prenatal gene screening revealed a couple with bothβ-thalassaemia carriers,and identified a mutation 3′-UTR+132(C>T)in theβ-globin gene,which was rarely reported in the Chinese population.Prenatal diagnostic genetic analyses of the fetus were performed.Methods Complete blood count and hemoglobin analysis were applied for primary thalassaemia screening.High-throughput sequencing was used to diagnoseα+βgene mutations in peripheral blood and fetal amniotic fluid.Sanger sequencing was used to validate mutations.Results The pregnant mother had the heterozygous mutation of IVS-Ⅱ-654(C>T)β+and displayed mild anemia,and her husband carried a rare mutation 3′-UTR+132(C>T),with no symptoms of anemia.After prenatal diagnosis,fetus inherited the parents mutant loci with the genotypeβ^(IVS-Ⅱ-654(C>T))/β^(3′-UTR+132(C>T)).Conclusion Mutations in the 3′-UTR+132 of theβ-globin gene are rare,and carriers usually have a silent phenotype(β^(++)),but when coinherited withβ^(0)/β^(+)thalassemia,it may result in thalassemia intermedia,which is of great value in guiding genetic counselling and prenatal genetic diagnosis.

关 键 词：地中海贫血 产前诊断 罕见地贫基因 

分 类 号：R714.5[医药卫生—妇产科学]