胎儿血红蛋白遗传性持续存在时β-珠蛋白链信使核糖核酸和基因DNA的缺失

Absence of messenger RNA and gene DNA for beta-globin chains in hereditary persistence of fetal hemoglobin.

作者信息

Forget B G, Hillman D G, Lazarus H, Barell E F, Benz ej J R, Caskey C T, Huisman T H, Schroeder W A, Housman D

出版信息

Cell. 1976 Mar;7(3):323-9. doi: 10.1016/0092-8674(76)90161-6.

Abstract

The relative amounts of alpha-amd beta-globin mRNA and globin gene DNA were measured in reticulocyte RNA and lymphocyte DNA of an individual with homozygous hereditary persistence of fetal hemoglobin whose red blood cells contain 100% fetal hemoglobin (hb F: alpha2gamma2.) Molecular hybridization assays used as probes full-length DNA copies of human alpha- and beta-globin messenger RNA. The results of these hybridization assays demonstrated the expected amounts of alpha-globin mRNA and gene DNA, but absence of beta-globin mRNA and absence of beta-globin gene DNA. In the individual studied, hereditary persistence of fetal hemoglobin is associated with total deletion of the beta-globin structural gene.

摘要

在一名纯合子遗传性胎儿血红蛋白持续存在的个体的网织红细胞RNA和淋巴细胞DNA中，测量了α-和β-珠蛋白mRNA以及珠蛋白基因DNA的相对含量，该个体的红细胞含有100%的胎儿血红蛋白（hb F：α2γ2）。分子杂交试验使用人α-和β-珠蛋白信使RNA的全长DNA拷贝作为探针。这些杂交试验的结果显示了预期数量的α-珠蛋白mRNA和基因DNA，但未检测到β-珠蛋白mRNA以及β-珠蛋白基因DNA。在所研究的个体中，胎儿血红蛋白的遗传性持续存在与β-珠蛋白结构基因的完全缺失有关。