一种罕见的同义突变导致的β-地中海贫血的基因诊断和表型分析  

Gene Diagnosis and Phenotypic Analysis ofβ-Thalassemia Caused from a Rare Synonymous Mutation CD29(C>T)

作　　者：秦丹卿[1,2] 杜丽 丁红珂[1,2] 王继成 袁腾龙[1,2] 姚翠泽 兰菲菲[1,2] QIN Dan-Qing;DU Li;DING Hong-Ke;WANG Ji-Cheng;YUAN Teng-Long;YAO Cui-Ze;LAN Fei-Fei(Medical Genetics Center of Guangdong Women and Children Hospital,Guangzhou 511442,Guangdong Province,China;Maternal and Children Metabolic-Genetic Key Laboratory of Guangdong,Guangzhou 511442,Guangdong Province,China)

机构地区：[1]广东省妇幼保健院医学遗传中心,广东广州511442 [2]广东省妇幼代谢与遗传病重点实验室,广东广州511442

出　　处：《中国实验血液学杂志》2020年第2期577-582,共6页Journal of Experimental Hematology

摘　　要：目的:对血常规和血红蛋白电泳筛查结果提示疑为β-地中海贫血携带者的孕妇及其丈夫进行β-地中海贫血基因诊断,鉴定其表型并对胎儿进行产前基因诊断。方法:采用聚合酶链式反应-反向点杂交(PCR-RDB)方法及DNA测序方法分析并鉴定孕妇及其丈夫的外周血和孕妇的羊水样本的β-珠蛋白基因突变。结果:检测到孕妇本人为常见的β-珠蛋白基因IVS-Ⅱ-654(C>T)位点杂合突变,其丈夫携带一种罕见β-珠蛋白基因CD29(c.90C>T)位点杂合突变,产前基因诊断出胎儿基因型为βIVS-Ⅱ-654/βCD29。结论:本研究在中国人群中确切基因鉴定出β-珠蛋白基因CD29(c.90 C>T)突变,此突变类型虽为同义突变但其携带者表现为β+-地中海贫血表型。考虑遗传风险应对此类同义突变给予重视,尤其对指导遗传咨询和产前基因诊断有重要意义。Objective:To investigate the gene diagnosis and phenotypes analysis for a couple withβ-thalassemia suspected from of blood routine test and hemoglobin electrophoresis,as well as the prenatal gene diagnosis of the fetus.Methods:The gene mutation ofβ-globin in the samples of peripheral blood of pregnant woman and her husband,as well as amniotic fluid of pregnant woman were analyzied and identified by using PCR-RDB and Sanger sequencing.Results:The detection showed that the heterozygote mutation of IVS-Ⅱ-654(C>T),which is common mutation ofβ-globin gene,existed in pregnant woman,while her husband carried a rare mutation CD29(c.90 C>T)ofβ-globin gene.The prenatal diagnosis indicated that the fetus inherited with mutation from the parents,fetus genotype wasβIVS-Ⅱ-6541/βCD29.Conclusion:The CD29(C>T)mutation ofβ-globin gene has been identified in Chinese population first.Although this mutation type is symonymous mutation,but its carrier displays phenotype ofβ-thalaessmia.Therefore,the attention to this mutation should be paid considering the genetic risk.It contributes to genetic counseling and prenatal gene diagnosis.

关 键 词：Β-地中海贫血 同义突变 剪接供体位点 中间型地中海贫血 

分 类 号：R556.61[医药卫生—血液循环系统疾病]