广西地区6例重症β地贫复合遗传性持续性胎儿血红蛋白综合征的基因型和临床表现  

MOLECULAR CHARACTERIZATION AND CLINICAL MANIFESTATION OF 6 PATIENTS WITH HOMOZYGOUSOR DOUBLE HETEROZYGOUS β-THALASSEMIA INASSOCIATION WITH HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN IN GUANGXI

作　　者：蒋南华[1] 梁徐[1] 金琪 

机构地区：[1]广西医科大学第一附属医院

出　　处：《中华血液学杂志》1995年第4期175-178,共4页Chinese Journal of Hematology

基　　金：国家自然科学基金

摘　　要：用多聚酶链反应结合Ｓａｎｇｅｒ法ＤＮＡ顺序测定，从４８个不同家系的重症β地中海贫血的患者中发现２例的Ｇγ珠蛋白基因的启动子－１５８ｎｔ有Ｃ→Ｔ突变。并且，他们的双亲之一有这种突变，同时伴有ＨｂＦ的增高。用Ｇγ－１５８ｎｔ（Ｃ→Ｔ）的寡聚脱氧核苷酸探针作斑点杂交，筛选这４８例患者，又发现４例有这种突变。这６例患者均为重症β地中海贫血复合遗传性持续性胎儿血红蛋白综合征，其临床表现均为中间型β地中海贫血。y the methods of PCR- based DNA sequencing andalleles specific oligodeoxynucleotides hybridization,a-mong 48 unrelatead families with β-thalassemia major wefound that 6 cases of homozygous or double heterozygousβ-thalassemia intermedia had the mutation of-158 nt(C→T)to Gγ globin gene. Although most of these 12β-thalassemia chromosomes were β°mutations, the 6 pa-tients of severe β- thalassemia in association with heredi-tary persistence of fetal hemoglobin ( HPFH)showedmoderate anemia and did not require transfusion. Asso-ciation with α-thalassemia was excluded in these pa-tients.

关 键 词：地中海贫血 基因型 血红蛋白综合征 HPFH 症状 

分 类 号：R556.61[医药卫生—血液循环系统疾病]