ADVANCES IN HEREDITARY RED-CELL ENZYME ANOMALIES

被引:27
作者
KAHN, A
KAPLAN, JC
DREYFUS, JC
机构
[1] Institut de Pathologie Moléculaire, U.129 de l'INSERM, CHU Cochin, Paris Cedex 14, 75674, 24, rue du Faubourg Saint-Jacques
关键词
D O I
10.1007/BF00295584
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
From the above report we can observe that recent advances in hereditary disorders of red cell enzymes concern molecular mechanisms of the defect and relationship between molecular anomalies and pathologic consequences. Moreover, congenital nonspherocytic hemolytic anemias of undertermined cause are becoming fewer. It seems to us that the perspectives opened in this field could develop in two ways. Firstly, the current possibility of obtaining homogeneous mutant enzymes (for pyruvate kinase, glucose phosphate isomerase, glucose-6-phosphate dehydrogenase, phosphoglycerate kinase) should enable the study of the structure-function relationship, as was done for hemoglobin. Secondly, the recent progress in genetic analysis and genetic engineering could provide a direct approach of the nature of the genetic defect at the DNA level. This should be fundamental to understand the nature of some enzyme deficiencies without any detectable abnormal product of a mutant gene (e.g., glucose phosphate isomerase deficiencies with silent gene and M-type phosphofructokinase deficiency). © 1979 Springer-Verlag.
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页码:1 / 27
页数:27
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