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通过比较定量酶电泳法检测地中海地区人群中的葡萄糖-6-磷酸脱氢酶缺乏症

The detection of glucose-6-phosphate dehydrogenase deficiency in mediterraneans by comparative quantitative enzyme electrophoresis.

作者信息

Smith M B, Whiteside M G

出版信息

Med J Aust. 1975 May 3;1(18):558-9.

PMID:1143145
Abstract

Glucose-6-phosphate dehydrogenase (G6PD) can be easily isolated from haemolysates by cellulose acetate electrophoresis, and heterozygous (as well as hemizygous and homozygous) G6PD deficiency can be readily detected if the activity of the enzyme is determined densitometrically after electrophoresis and expressed as a ratio of the activity of a second enzyme, 6-phosphogluconate dehydrogenase (6PGD), which is isolated at the same time and whose activity is similarly determined. A method is presented here, together with the results of a recent survey in which 400 babies of Greek origin were tested for G6PD deficiency by the method. An overall incidence of 4-3% was found in the group; 2-9% of the males were completely G6PD deficient and 5-2% of the females were heterozygous for the deficiency.

摘要

葡萄糖-6-磷酸脱氢酶(G6PD)可通过醋酸纤维素电泳从溶血产物中轻松分离出来。如果在电泳后通过光密度法测定该酶的活性,并将其表示为同时分离出的另一种酶6-磷酸葡萄糖酸脱氢酶(6PGD)活性的比值,那么杂合子(以及半合子和纯合子)G6PD缺乏症就能很容易地被检测出来,6PGD的活性也是以类似方式测定的。本文介绍了一种方法,以及最近一项调查的结果,在该调查中,采用此方法对400名希腊裔婴儿进行了G6PD缺乏症检测。该组中G6PD缺乏症的总体发病率为4.3%;2.9%的男性完全缺乏G6PD,5.2%的女性为该缺乏症的杂合子。

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引用本文的文献

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Factors influencing jaundice in immigrant Greek infants.影响希腊移民婴儿黄疸的因素。
Arch Dis Child. 1978 Jan;53(1):49-52. doi: 10.1136/adc.53.1.49.