半乳糖血症
杂合子优势
医学
半乳糖
遗传病
遗传学
突变
酶
疾病
复合杂合度
基因
生物化学
等位基因
生物
内科学
出处
期刊:JAMA
[American Medical Association]
日期:1969-06-16
卷期号:208 (11): 2077-2077
被引量:6
标识
DOI:10.1001/jama.1969.03160110049013
摘要
Galactosemia results from a hereditary defect of the galactose-1-phosphate uridyl transferase enzyme, which is necessary for proper metabolism of the sugar, galactose (Fig 1). This molecular disease provides a useful model for the consequences of mutations in humans which alter gene, function. Molecular disease, as a concept, is not new, but progress in understanding these inborn enzyme defects has been striking during the last decade.1The advances made in the understanding of both the biochemistry and genetics of these hereditary diseases have resulted in improved medical practice. Galactosemia is a molecular disease which exemplifies the classical model of an autosomal-recessive disorder.2,3Because human erythrocytes reflect the pathways of metabolism of galactose, they have been a convenient source of tissue for biochemical and genetic analysis.4By chemical manipulation of isolated erythrocytes the occurrence of galactosemia can be determined with certainty and heterozygotes or carriers from both the diseased
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