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印度北部的同种白蛋白血症。

Alloalbuminemia in North India.

作者信息

Kaur H, Franklin S G, Shrivastava P K, Blumberg B S

出版信息

Am J Hum Genet. 1982 Nov;34(6):972-9.

Abstract

Electrophoretic screening of sera from 550 individuals from Punjab, North India, revealed four cases of alloalbuminemia. Two albumin variants migrated slower and two migrated faster than the common albumin A. These variants were further analyzed by electrophoresis of their cyanogen bromide fragments to localize their molecular differences. One of the slow variants appears similar to, if not identical with, albumin B, with an altered cyanogen bromide fragment CNBr VII. The other slow variant appears to be a new variant (proposed name albumin Punjab) differing from albumin A in an altered fragment CNBr VI (which also occurs in albumins Kashmir and Adana) and in an altered fragment CNBr I. Among the fast variants, one has the same altered fragment CNBr V as albumin Naskapi, while the other appears to be a new variant (proposed name albumin Patiala) having an altered fragment CNBr VI. The presence of albumin Naskapi in Punjabis, North American Indians, and Eti Turks (previously reported) is consistent with the existence of a common ancestral population in which the mutation to Naskapi occurred before the migrations eastward and westward.

摘要

对来自印度北部旁遮普邦的550人的血清进行电泳筛查,发现了4例同种白蛋白血症病例。两种白蛋白变体迁移速度比常见的白蛋白A慢,两种比白蛋白A快。通过对其溴化氰片段进行电泳进一步分析这些变体,以确定它们的分子差异。其中一种慢变体即便与白蛋白B不完全相同也很相似,其溴化氰片段CNBr VII发生了改变。另一种慢变体似乎是一种新变体(提议命名为白蛋白旁遮普),与白蛋白A的不同之处在于其溴化氰片段CNBr VI发生了改变(在白蛋白克什米尔和阿达纳中也有)以及溴化氰片段CNBr I发生了改变。在快变体中,一种与白蛋白纳斯卡皮具有相同的改变片段CNBr V,而另一种似乎是一种新变体(提议命名为白蛋白帕蒂亚拉),其溴化氰片段CNBr VI发生了改变。旁遮普人、北美印第安人和埃蒂土耳其人(先前有报道)中存在白蛋白纳斯卡皮,这与存在一个共同祖先群体相一致,在该群体中向纳斯卡皮的突变发生在向东和向西迁移之前。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/74bc/1685712/452cf4740583/ajhg00360-0142-a.jpg

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