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西非冈比亚碳酸酐酶II多态性的人群和家族研究。

Population and family studies on carbonic anhydrase II polymorphism in Gambia, West Africa.

作者信息

Welch S

出版信息

Humangenetik. 1975;27(2):163-6. doi: 10.1007/BF00273333.

Abstract

614 individuals from the village of Keneba in Gambia (West Africa) have been typed for red cell Carbonic Anhydrase II using cellulose acetate electrophoresis followed by detection of the enzyme with the fluorogenic substrate fluorescein diacetate. Three phenotypes were found; 479 CAII 1 (80.94%), 107 CAII 2-1 (17.43%), and 10 CAII 2 (1.63%). The gene frequencies of the 2 autosomal alleles responsible for the electrophoretically distinguishable polymorphism were CAII 1 0.897 and CAII 2 0.103. A study of 72 families confirmed the simple Menedelian co-dominant inheritance.

摘要

来自西非冈比亚凯内巴村的614人接受了红细胞碳酸酐酶II分型,采用醋酸纤维素电泳,随后用荧光底物荧光素二乙酸酯检测该酶。发现了三种表型:479例CAII 1(80.94%)、107例CAII 2-1(17.43%)和10例CAII 2(1.63%)。导致电泳可区分多态性的两个常染色体等位基因的基因频率分别为CAII 1 0.897和CAII 2 0.103。对72个家庭的研究证实了简单的孟德尔共显性遗传。

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