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洛厄尔变异体的生化与遗传学特征。6-磷酸葡萄糖酸脱氢酶的一种新表型。

Biochemical and genetic characterization of the Lowell variant. A new phenotype of 6-phosphogluconate dehydrogenase.

作者信息

Nelson M S

出版信息

Hum Genet. 1982;62(4):333-6. doi: 10.1007/BF00304550.

Abstract

A new electrophoretic variant of 6-phosphogluconate dehydrogenase (6PGD) has been detected in the Caucasian population in North Carolina, and family studies have shown this variant to be transmissible. This variant has been given the trivial name "Lowell" and the allele controlling its synthesis in conjunction with 6PGDA has been named 6PGDL. The banding pattern produced by the Lowell variant after electrophoresis is not affected by either NADP or 2-mercaptoethanol. Inhibition studies with urea and iodoacetate have shown that this variant is inhibited to approximately the same degree as the Richmond and Friendship variants. Thermostability studies have shown that the isozyme bands encoded by 6PGDA, 6PGDElcho, 6PGDC, and 6PGDL have a relative thermal stability in the order 6PGDA greater than 6PGDElcho greater than 6PGDC greater than 6PGDL.

摘要

在北卡罗来纳州的白种人群中检测到了一种新的6-磷酸葡萄糖酸脱氢酶(6PGD)电泳变体,家族研究表明该变体可遗传。此变体被赋予俗名“洛厄尔”,与6PGDA共同控制其合成的等位基因被命名为6PGDL。洛厄尔变体电泳后产生的条带模式不受NADP或2-巯基乙醇的影响。用尿素和碘乙酸进行的抑制研究表明,该变体受到的抑制程度与里士满变体和友谊变体大致相同。热稳定性研究表明,由6PGDA、6PGDElcho、6PGDC和6PGDL编码的同工酶带具有相对热稳定性,顺序为6PGDA大于6PGDElcho大于6PGDC大于6PGDL。

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