一种罕见α-地贫基因突变HbH病(--^(SEA)/α^(*92A>G)α)的家系分析与基因诊断  

Hemoglobin H disease with a rare α- thalassemia gene mutation(--^(SEA)/α^(*92A>G)α): pedigree analysis and genetic diagnosis

作　　者：颜善活 劳可干 符可鹏 龚菲菲 温晓君[2] 周万军[2] YAN Shanhuo LAO Kegan FU Kepeng GONG Feifei WEN Xiaojun ZHOU Wanjun(Qingzhou Maternal and Child Healthcare Hospital, Qingzhou 535099, China Department of Medical Genetics, Southern Medical University, Guangzhou 510515, China)

机构地区：[1]广西壮族自治区钦州市妇幼保健院,广西钦州535099 [2]南方医科大学医学遗传学教研室,广东广州510515

出　　处：《南方医科大学学报》2016年第9期1295-1298,共4页Journal of Southern Medical University

基　　金：广东省自然科学基金(2014A030313314)

摘　　要：目的鉴定中国南方人群中的一种罕见α-地贫基因突变,以及此突变所致Hb H病的家系分析和基因诊断。方法采集家系成员外周全血,进行血液学表型分析和地贫基因常规检测,对常规检测基因型与表型不符的标本进一步DNA测序分析。结果该家系中检出罕见α-地贫基因*92A>G突变,确认先证者及先证者姐姐基因型为--SEA/α*92A>Gα的非缺失型Hb H病,先证者哥哥基因型为-α3.7/α*92A>Gα的标准型α-地贫、父亲基因型为αα/α*92A>Gα的静止型α-地贫。结论首次鉴定报道了中国南方人群中罕见α-地贫基因*92A>G突变,以及携带此突变的静止型α-地贫、复合此突变非缺失型Hb H病的基本表型特征,丰富了中国人群α-地贫基因突变谱,有助于指导α-地贫的人群筛查、临床基因诊断和遗传咨询。Objective To identify a rare α-thalassemia gene mutation in a family from south China and perform a pedigree analysis and genetic diagnosis of hemoglobin H （HbH） disease caused by this mutation. Methods Peripheral blood samples were collected from the family members for analysis of the hematological phenotype and routine test of thalassemia genes. DNA sequencing was carried out for samples that showed genotype and phenotype inconsistency. Results A rareα-thalassemia ＊92A〉G gene mutation was detected within this family. The proband and his sister were confirmed to have non-deletional HbH disease with a--^SEA/α^＊92A〉Gαgenotype. The proband＇s brother was confirmed to have anα-thalassemia trait with the genotype of-α^3.7/α^＊92A〉Gα. The proband＇s father was identified as anα-thalassemia silent carrier with the genotype ofαα/α^＊92A〉Gα. Conclusion A rare α-thalassemia ＊92A〉G gene mutation was identified for first time in south China. The description of the basic phenotypic characteristics ofα-thalassemia trait and silent carrier caused by this mutation enriches theα-thalassemia gene mutation spectrum in Chinese population and helps in population screening, clinical molecular diagnosis and genetic counseling.

关 键 词：地中海贫血 HBH病 突变 家系 基因诊断 

分 类 号：R556.61[医药卫生—血液循环系统疾病]