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22种蛋白质基因变异在日本人中的频率。III. 磷酸葡萄糖变位酶-1、磷酸葡萄糖变位酶-2、6-磷酸葡萄糖酸脱氢酶、腺苷酸激酶和腺苷脱氨酶。

The frequency in Japanese of genetic variants of 22 proteins. III. Phosphoglucomutase-1, phosphoglucomutase-2, 6-phosphogluconate dehydrogenase, adenylate kinase, and adenosine deaminase.

作者信息

Satoh C, Ferrell R E, Tanis R J, Ueda N, Kishimoto S, Neel J V, Hamilton H B, Baba K

出版信息

Ann Hum Genet. 1977 Oct;41(2):169-83. doi: 10.1111/j.1469-1809.1977.tb01912.x.

Abstract

Five enzyme systems, PGM1, PGM2, ADA, 6-PGD and AK, were examined by electrophoresis in over 4000 samples from Hiroshima and Nagasaki for the frequencies of common and rare variants. In the PGM1 system, the PGM2(1) allele and PGM7(1) allele were found in polymorphic proportions, In addition, five kinds of slow variants and three types of fast variants of PGM1 were detected. The PGM3(1)NGS1 allele was found in five individuals from Nagasaki, but was not observed in samples from Hiroshima. There were no variants of PGM2. Three kinds of fast variants of 6-PGD were detected. No variation in AK was observed. There were no rare variants of ADA. The 6-PGDc allele had a frequency of 0.084 in Hiroshima and 0.093 in Nagasaki, and the ADA2 allele frequencies of 0.025 in Hiroshima and 0.032 in Nagasaki.

摘要

通过电泳对来自广岛和长崎的4000多个样本中的五种酶系统(PGM1、PGM2、ADA、6 - PGD和AK)进行了检测,以确定常见和罕见变体的频率。在PGM1系统中,PGM2(1)等位基因和PGM7(1)等位基因呈多态比例存在。此外,还检测到PGM1的五种慢速变体和三种快速变体。PGM3(1)NGS1等位基因在来自长崎的五个人中被发现,但在广岛的样本中未观察到。PGM2没有变体。检测到6 - PGD的三种快速变体。未观察到AK的变异。ADA没有罕见变体。6 - PGDc等位基因在广岛的频率为0.084,在长崎为0.093,ADA2等位基因频率在广岛为0.025,在长崎为0.032。

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