血红蛋白Lepore纯合子的DNA和珠蛋白信使核糖核酸缺陷。
Defects in DNA and globin messenger RNA in homozygotes for hemoglobin Lepore.
作者信息
Ramirez F, Mears J G, Nudel U, Bank A, Luzzatto L, DiPrisco G, D'Avino R, Pepe G, Camardella L, Gambino R, Cimino R, Quattrin N
出版信息
J Clin Invest. 1979 Apr;63(4):736-42. doi: 10.1172/JCI109357.
Globin messenger RNA (mRNA) isolated from three patients homozygous for hemoglobin Lepore is shown to have a marked reduction of the amount of beta-like globin mRNA (Lepore-globin mRNA sequences) compared with alpha-globin mRNA by molecular hybridization. The relative amounts of alpha- and Lepore mRNA are similar to the amounts of alpha- and Lepore globin synthesized in intact cells and by isolated mRNA in a cell-free system. It is also demonstrated that Lepore-globin mRNA can completely hybridize to full-length or nearly full-length beta-globin specific complementary DNA and protect it from nuclease digestion, indicating close homology between the delta-mRNA sequences present in Lepore mRNA and the beta-complementary-DNA probe. We have also quantitated the numbers of beta-like globin gene sequences in genomic Lepore DNA by molecular hybridization and demonstrated a reduction in their number consistent with the Lepore gene being a delta beta-gene fusion product.
通过分子杂交发现，从三名血红蛋白Lepore纯合子患者中分离出的珠蛋白信使核糖核酸（mRNA）显示，与α-珠蛋白mRNA相比，β-样珠蛋白mRNA（Lepore-珠蛋白mRNA序列）的量显著减少。α-和Lepore mRNA的相对量与完整细胞中以及无细胞系统中分离的mRNA合成的α-和Lepore珠蛋白的量相似。还证明Lepore-珠蛋白mRNA可以与全长或几乎全长的β-珠蛋白特异性互补DNA完全杂交，并保护其免受核酸酶消化，这表明Lepore mRNA中存在的δ-mRNA序列与β-互补DNA探针之间具有密切的同源性。我们还通过分子杂交对基因组Lepore DNA中β-样珠蛋白基因序列的数量进行了定量，并证明其数量减少，这与Lepore基因是δβ-基因融合产物一致。
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