Molecular genetics of human hemoglobin synthesis.
Molecular genetics of human hemoglobin synthesis.
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人类血红蛋白合成的分子遗传学。
DOI：
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发表时间：
1979
影响因子：
39.2
通讯作者：
B. Forget
中科院分区：
文献类型：
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作者：
B. Forget
对正常和异常人类珠蛋白基因及其基因产物的分子分析最近提供了导致血红蛋白病的精确遗传事件的信息。在结构异常的血红蛋白的情况下，可以调用以下机制：导致氨基酸替换或链终止变体的单核苷酸碱基取代;导致缺失和移码变体的核苷酸缺失（或添加）;以及导致融合珠蛋白链产生的非同源交叉。地中海贫血综合征是一种以α-或β-珠蛋白链合成缺失或减少为特征的疾病，其分子基础是非常异质的。在某些情况下，珠蛋白基因缺失已被证明;而在其他情况下，可能存在珠蛋白基因转录缺陷或核珠蛋白信使RNA（mRNA）加工、mRNA转运或珠蛋白mRNA稳定性缺陷。在一种形式的β（0）地中海贫血中，最近已经证实了无义突变，其他病例也与β-珠蛋白mRNA的某些尚未确定的功能异常有关。
Molecular analysis of normal and abnormal human globin genes and their gene products has recently provided information on the precise genetic events that result in hemoglobinopathies. In the case of structurally abnormal hemoglobins, the following mechanisms can be invoked: single nucleotide base substitutions leading to amino acid replacement or chain termination variants; nucleotide deletions (or additions) leading to deletion and frameshift variants; and nonhomologous crossing over leading to the production of fused globin chains. The molecular basis of the thalassemia syndromes, disorders characterized by absent or decreased synthesis of alpha- or beta-globin chains, is quite heterogeneous. In some cases globin gene deletions have been demonstrated; whereas in others there is probably either a defect in globin gene transcription or a defect in nuclear globin messenger RNA (mRNA) processing, mRNA transport or globin mRNA stability. In one form of beta(0)-thalassemia a nonsense mutation has recently been demonstrated, and other cases are also associated with some as yet undetermined functional abnormality of beta-globin mRNA.