在一个中国人家庭中发现联锁的三个α-珠蛋白基因

本文以重组质粒pRB_α1 PstI-1.5Kb片段为α-珠蛋白基因探针,应用限制性内切酶图谱和印迹杂交技术,分析了一个中国人家庭的α-珠蛋白基因在染色体上的排列。该家庭的父母在临床上均无明显的贫血症状,而其一对孪生女患有HbH病。基因分析表明,母亲在一条染色体上具有三个紧密连锁的α-基因,而在另一染色体上完金缺失α-基因(ααα/--),父亲为右侧缺失α-地贫2杂合子(α-/αα),两个女儿均为右侧缺失α-地贫2与α-地贫1双重杂合子(α-/--)。     

TRIPLICATED α-GLOBIN GENE LOCI IN A CHINESE FAMILY

Utilizing restriction endonuclease mapping and blot bybridization, we have determined the arrangement of the α-globin genes in a Chinese family. The father and mother had no obvious α-thalassemia symptoms, but their twin daughters suffered from HbH disease. The gene analysis showed that the mother had three α-globin genes in one chromosome and no α-globin gene in the other (ααα/--), the father was a heterozygote of α-thal2 (αα/-α). Their twin daughters were double heterozygotes of α-thall and the rightward deletion genotype α-thal2 (--/-α)