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在二维凝胶中观察到的106种淋巴细胞多肽中检测到的基因变体。

Genetic variants detected among 106 lymphocyte polypeptides observed in two-dimensional gels.

作者信息

Hanash S M, Baier L J, Welch D, Kuick R, Galteau M

出版信息

Am J Hum Genet. 1986 Sep;39(3):317-28.

Abstract

Peripheral blood lymphocytes from 40 children have been examined for genetic variation in their protein constituents by two-dimensional polyacrylamide gel electrophoresis. One hundred six polypeptides chosen without respect to genetic variability were scored in gels from the 40 children. For each child, gels from both parents were also examined to substantiate the genetic basis of variants observed. Of the total of 4,240 polypeptides, 23 could not be scored unambiguously. Fourteen of the polypeptides showed genetic variants in one or more of the children. One hundred twenty-nine of 4,217 polypeptides scored exhibited the combination of a normal and a variant polypeptide. All variants were present in at least one of the parents of the subject. The index of heterozygosity observed (3.05% +/- .23%) indicates substantial genetic variation in cellular protein constituents.

摘要

通过二维聚丙烯酰胺凝胶电泳,对40名儿童的外周血淋巴细胞进行了蛋白质成分的遗传变异检测。在40名儿童的凝胶中,对106种不考虑遗传变异性而选择的多肽进行了评分。对于每个孩子,还检查了其父母的凝胶,以证实所观察到的变异的遗传基础。在总共4240种多肽中,有23种无法明确评分。其中14种多肽在一个或多个孩子中显示出遗传变异。在4217种已评分的多肽中,有129种呈现出正常多肽和变异多肽的组合。所有变异至少存在于该受试者的一位父母中。观察到的杂合度指数(3.05%±0.23%)表明细胞蛋白质成分存在大量遗传变异。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/59f3/1683961/7e48dbfc925e/ajhg00145-0032-a.jpg

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