The frequency in Japanese of genetic variants of 22 proteins: V. Summary and comparison with data on Caucasians from the British Isles
The frequency in Japanese of genetic variants of 22 proteins: V. Summary and comparison with data on Caucasians from the British Isles
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日语中 22 种蛋白质遗传变异的频率：V. 总结以及与不列颠群岛白种人数据的比较
DOI：
10.1111/j.1469-1809.1978.tb00913.x
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发表时间：
1978
影响因子：
1.9
通讯作者：
H. Hamilton
中科院分区：
文献类型：
--
作者：
J. Neel;N. Ueda;C. Satoh;R. Ferrell;R. Tanis;H. Hamilton
总结了广岛和长崎的一系列22种蛋白质（25种多肽）的罕见变异体（占调查个体的不到2%）的频率。每种蛋白质的平均检测人数为3312人。在该系列中有三对同源蛋白：PGM和PGM，CA I和CA 11，以及HGB A和A，。只有对于第一对是有显着差异的总频率和不同种类的变体的数量两者之间，这可能反映了相应的结构基因的突变率的差异。对于这些多肽中的23种，英国高加索人可获得可比数据。两个系列中共同位点变异的平均频率为日本人2.0/1000人，高加索人1.6/1000人。在两个基因座（PGM 1和PHI）处，日本人中的变异体显著多于英国人;这两个基因座解释了日本人中变异体的更大平均频率。然而，使用Ewens（1972）的0统计量对遇到的不同变体（电变体）的数量进行保守比较，对于22种可能的对比中的任何一种都没有产生显著差异。这种类型的数据在达成结论的潜在有用性在两个人口中的突变率的可比性进行了讨论。目前，一个电变体可能隐藏蛋白质中多个不同的氨基酸取代这一事实限制了从此类对比中得出的推论。
The frequencies in Hiroshima and Nagasaki of rare variants (represented in less than 2 % of the individuals surveyed) is summarized for a series of 22 proteins (25 polypeptides). The average number of persons examined for each protein was 3312. There are three pairs of homologous proteins in the series: PGM, and PGM, CA I and CA 11, and HGB A and A,. Only for the first pair is there a significant difference between the two in the total frequency and number of different kinds of variants; it is suggested this may reflect differences in the mutation rates of the corresponding structural genes. For 23 of these polypeptides, comparable data are available for British Caucasians. The average frequency of variants for loci in common in the two series is 2.0/1000 person determinations for Japanese and 1.6/1000 for Caucasoids. At two loci (PGMl and PHI) there were significantly more variants in Japanese than in British; these two loci account for the greater average frequency of variants in Japanese. However, a conservative comparison of number of diflerent variants (electromorphs) encountered, using the 0 statistic of Ewens (1972), yields no significant difference for any of the 22 possible contrasts. The potential usefulness of data of this type in reaching conclusions regarding comparability of mutation rates in two populations is discussed. For the present, the fact that one electromorph may shelter multiple different amino acid substitutions in a protein limits the inferences to be drawn from such contrasts.