在法裔加拿大人群中，对PGM1位点的红细胞磷酸葡萄糖变位酶（酶编号：2.7.5.1）进行等电聚焦分析。

Isoelectric focusing of red cell phosphoglucomutase (E.C.: 2.7.5.1) at the PGM1 locus in a French-Canadian population.

作者信息

Chagnon Y C, Bouchard C, Allard C

机构信息

Physical Activity Sciences Laboratory, Laval University, Québec, Canada.

出版信息

Hum Genet. 1981;59(1):36-8. doi: 10.1007/BF00278851.

DOI:10.1007/BF00278851

PMID:10819019

Abstract

Phosphoglucomutase1 (PGM1) polymorphism was studied in a French-Canadian population of Québec city, Canada by means of a low voltage (max 500 V) isoelectric focusing (IEF) procedure on vertical polyacrylamide gel slabs. Frequencies of the four common PGM1 genes estimated from the phenotype distribution in 308 unrelated individuals were PGM1(1+), 0.61 (+/- 0.02); PGM1(1-), 0.13 (+/- 0.01); PGM1(2+), 0.18 (+/- 0.02); and PGM1(2-), 0.08 (+/- 0.01). The segregation patterns observed in 154 families, which included 31 different mating types and 353 children, confirmed a Mendelian inheritance of four autosomal genes. The distribution of the PGM1 phenotypes observed or expected in a Hardy-Weinberg equilibrium was compared with that of other populations. A significant (P < 0.001) difference was found between the Québec population and a Black population from Keneba, Gambia, West-Africa.

摘要

采用低电压（最大500伏）等电聚焦（IEF）方法，在垂直聚丙烯酰胺凝胶板上对加拿大魁北克市的法裔加拿大人群体进行了磷酸葡萄糖变位酶1（PGM1）多态性研究。根据308名无关个体的表型分布估算的四种常见PGM1基因频率分别为：PGM1(1+)，0.61（±0.02）；PGM1(1-)，0.13（±0.01）；PGM1(2+)，0.18（±0.02）；PGM1(2-)，0.08（±0.01）。在154个家庭（包括31种不同交配类型和353名子女）中观察到的分离模式，证实了四个常染色体基因的孟德尔遗传。将在哈迪-温伯格平衡中观察到或预期的PGM1表型分布与其他群体进行了比较。发现魁北克群体与西非冈比亚凯内巴的黑人群体之间存在显著差异（P < 0.001）。