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希腊人群中血清胆碱酯酶变异体分型筛查试验的有效性

Validity of a screening test for typing serum cholinesterase variants among Greek populations.

作者信息

Das P K, Kattamis C, Haidas S, Liddell J

出版信息

Hum Hered. 1975;25(6):429-41. doi: 10.1159/000152758.

Abstract

A screening method for determining the abnormal phenotypes of human serum cholinesterase variants in a population survey was investigated. The test appeared to be satisfactory in detecting abnormal genotypes, but not assigning them into correct classification. The results of the population survey indicate that there may be a higher frequency of ChU1ChD1 genotype than those reported earlier. Family studies of the suxamethonium-sensitive propositi in this population demonstrate that abnormal genes ChD1, ChF1 and ChS1 are segregating, according to the usual Mendelian type of inheritance pattern. The possibility of a relatively high frequency of these abnormal genotypes among the Greek population has been indicated.

摘要

研究了一种在人群调查中确定人血清胆碱酯酶变体异常表型的筛查方法。该检测方法在检测异常基因型方面似乎令人满意,但无法将其正确分类。人群调查结果表明,ChU1ChD1基因型的频率可能比早期报道的要高。对该人群中琥珀酰胆碱敏感先证者的家系研究表明,异常基因ChD1、ChF1和ChS1按照常见的孟德尔遗传模式进行分离。这表明在希腊人群中这些异常基因型的频率可能相对较高。

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