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先天性色盲中酶缺乏与皮纹的遗传特征。

Hereditary characteristics of enzyme deficiency and dermatoglyphics in congenital color blindness.

作者信息

Wu L Z, Zeng L H, Ma Q Y, Xie Y J, Chen Y Z, Wu D Z

机构信息

Eye Research Institute, Zhongshan Ophthalmic Center, Sun Yat-Sen University of Medical Sciences, Guangzhou, China.

出版信息

Jpn J Ophthalmol. 1988;32(2):236-45.

PMID:3263528
Abstract

The hereditary characteristics of enzyme deficiency and dermatoglyphics in congenital color blindness (CCB) were studied. We propose that there is a linkage between the two loci on the X-chromosome determining CCB and glucose-6-phosphate dehydrogenase (G6PD), based on our study of a high incidence of G6PD deficiency in 156 male cases with CCB. The CCB gene is closely linked with that of G6PD deficiency from our pedigree investigations. The rise in the frequency of eight or more whorls, the low value of atd angle and the presenting rate of real palmar patterns of the thenar, hypothenar and I, areas presented the hereditary traits of congenital color blindness.

摘要

对先天性色盲(CCB)中酶缺乏与皮纹的遗传特征进行了研究。基于我们对156例男性先天性色盲病例中葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症高发病率的研究,我们提出在X染色体上决定先天性色盲的两个基因座与葡萄糖-6-磷酸脱氢酶(G6PD)之间存在连锁关系。从我们的系谱研究来看,先天性色盲基因与葡萄糖-6-磷酸脱氢酶缺乏症基因紧密连锁。八个或更多涡纹频率的上升、atd角的低值以及大鱼际、小鱼际和Ⅰ区真实掌纹的出现率呈现出先天性色盲的遗传特征。

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