纯合子α地中海贫血-2与纯合子IVS-I-5 G-Cβ基因突变的伴发遗传并不影响地中海贫血表型的严重程度。
Concomitant inheritance of homozygous alpha-thalassemia-2 with homozygous IVS-I-5 G-C beta gene mutation does not influence the severity of the thalassemic phenotype.
作者信息
Beris P H, Darbellay R, Beck D, Oner R
机构信息
Département de Médecine, Hôpital Cantonal Universitaire de Genève, Switzerland.
出版信息
Nouv Rev Fr Hematol (1978). 1991;33(3):227-30.
An Asian Indian child presented the severe transfusion dependent form of beta-thalassemia major. Sequencing data and gene mapping analysis revealed the concomitant presence of homozygous alpha-thal-2 type 3.7 kb deletion with homozygous beta+ thal IVS-1-5 G-C mutation. Further studies at the DNA level demonstrated that he was XmnI negative at the -158 G gamma site and had the haplotype + ----- +. These results indicate that in the absence of high HbF determinants, concomitant inheritance of homozygous alpha-thal-2 with homozygous severe beta+ thal does not influence the severity of the thalassemic phenotype.
一名亚洲印度儿童表现出严重的依赖输血的重型β地中海贫血。测序数据和基因图谱分析显示，同时存在纯合子α-珠蛋白生成障碍性贫血2型3.7 kb缺失和纯合子β+地中海贫血IVS-1-5 G-C突变。DNA水平的进一步研究表明，他在-158 Gγ位点为XmnI阴性，并且具有单倍型+ ----- +。这些结果表明，在缺乏高HbF决定因素的情况下，纯合子α-珠蛋白生成障碍性贫血2型与纯合子严重β+地中海贫血的同时遗传不会影响地中海贫血表型的严重程度。
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