HBA2基因非编码区罕见突变分子诊断及家系分析  

Molecular Diagnosis and Pedigree Analysis of Rare Mutations in Non-coding Region of HBA2 Gene

作　　者：陈丽竹 严提珍 黄钧 钟青燕 秦雪[2] 唐宁 罗世强 CHEN Li-Zhu;YAN Ti-Zhen;HUANG Jun;ZHONG Qing-Yan;QIN Xue;TANG Ning;LUO Shi-Qiang(Department of Medical Genetics,Liuzhou Maternity and Child Healthcare Hospital,Liuzhou Key Laboratory of Birth Defects Prevention and Control,Liuzhou 545001,Guangxi Zhuang Autonomous Region,China;Department of Inspection Division,The First Affiliated Hospital of Guangxi Medical University,Nanning 530000,Guangxi Zhuang Autonomous Region,China;Liuzhou Key Laboratory of Thalassemia Precision Prevention and Treatment,Liuzhou 545001,Guangxi Zhuang Autonomous Region,China;Guangxi Clinical Research Center for Obstetrics and Gynecology,Liuzhou 545001,Guangxi Zhuang Autonomous Region,China;Department of Inspection Division,The Reproductive Hospital of Guangxi Zhuang Autonomous Region,The Reproductive Health of Guangxi Zhuang Autonomous Region,Nanning 530000,Guangxi Zhuang Autonomous Region,China)

机构地区：[1]柳州市妇幼保健院医学遗传科,柳州市出生缺陷重点防治实验室,广西柳州545001 [2]广西医科大学第一附属医院检验科,广西南宁530000 [3]柳州市地中海贫血精准防治重点实验室,广西柳州545001 [4]广西妇产疾病临床医学研究中心,广西柳州545001 [5]广西壮族自治区生殖医院检验科,广西壮族自治区生殖健康研究中心,广西南宁530000

出　　处：《中国实验血液学杂志》2024年第3期940-944,共5页Journal of Experimental Hematology

基　　金：国家自然科学基金(81360091);柳州市科技重大专项项目(2018AF10501);广西壮族自治区卫生和计划生育委员会科研课题(Z20170528,Z-B20221578);广西重点研发计划项目(2021AB12015);柳州市科技创新能力和条件建设项目(2014G020404,2018AF10501,2021YB0103A013);广西医学高层次骨干人才“139”计划培养目标专项(G202003028);柳州市科技计划项目(2022SB024);柳州市1/10/100人才专项;广西妇产疾病临床医学研究中心-桂科(AD22035223)。

摘　　要：目的:对1例不符合遗传规律的α-地中海贫血病例进行分子诊断及家系分析,探索新发现的罕见突变(HBA2:c.*12G>A)对临床表型的影响。方法:采集先证者及其家系成员的血液样本进行血常规检测,毛细管电泳法进行血红蛋白组分分析,常规技术(Gap-PCR、RDB-PCR)检测中国人群常见的α-及β-珠蛋白基因位点,Sanger测序法分析α-珠蛋白基因序列(HBA1、HBA2)。结果:通过分析先证者及其家系成员的检测结果,检出先证者基因型为-α^(3.7)/HBA2:c.*12G>A,其父亲为罕见α-珠蛋白基因HBA2:c.*12G>A杂合突变携带者。结论:本研究发现了一种未报道的罕见α-珠蛋白基因突变HBA2:c.*12G>A,其杂合突变携带者表现为静止型α-地中海贫血。Objective:To perform molecular diagnosis and pedigree analysis for one case withα-thalassemia who does not conform to the genetic laws,and explore the effects of a newly discovered rare mutation(HBA2:c.*12G>A)on clinical phenotypes.Methods:Blood samples of the proband and her family members were collected for blood routine analysis,and the hemoglobin components were analyzed by capillary electrophoresis.The commonα-andβ-globin gene loci in Chinese population were detected by conventional techniques(Gap-PCR,RDB-PCR).Theα-globin gene sequences(HBA1,HBA2)were analyzed by Sanger sequencing.Results:By analyzing the test results of proband and her family members,the genotype of the proband was-α^(3.7)/HBA2:c.*12G>A,her father was HBA2:c.*12G>A heterozygous mutation carrier.Conclusion:This study identifies a rareα-globin gene mutation(HBA2:c.*12G>A)that has not been reported before.It is found that heterozygous mutation carriers present with staticα-thalassemia.

关 键 词：Α-地中海贫血 基因突变 HBA2:c.*12G>A 3′非翻译区 

分 类 号：R556.61[医药卫生—血液循环系统疾病]