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通过二维凝胶电泳鉴定红细胞裂解液中的基因变体。

Identification of genetic variants in erythrocyte lysate by two-dimensional gel electrophoresis.

作者信息

Rosenblum B B, Neel J V, Hanash S M, Joseph J L, Yew N

出版信息

Am J Hum Genet. 1984 May;36(3):601-12.

Abstract

Two-dimensional gel electrophoresis followed by silver-staining has been employed to study 27 red cell lysates for genetic variation. Forty-six polypeptides selected without respect to variability were considered suitable for scoring. Only 23 of the total of 1,242 polypeptides could not be scored unambiguously. Of the remaining 1,219 polypeptides, 38 exhibited the combination of a normal and a variant polypeptide. All variants were present in either the father or the mother of the subjects. The observed index of heterozygosity was 3.1% +/- 0.5%.

摘要

采用二维凝胶电泳继以银染法研究了27份红细胞裂解物的遗传变异情况。不考虑变异性而挑选出的46种多肽被认为适合进行评分。在总共1242种多肽中,只有23种无法明确评分。在其余1219种多肽中,有38种呈现出正常多肽和变异多肽的组合。所有变异均出现在受试者的父亲或母亲一方。观察到的杂合度指数为3.1%±0.5%。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ea3c/1684473/b85715f4a4e5/ajhg00165-0113-a.jpg

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