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一些不同人群中人类红细胞膜带3变体的频率。

Frequencies of Band 3 variants of human red cell membranes in some different populations.

作者信息

Ranney H M, Rosenberg G H, Morrison M, Mueller T J

机构信息

Veterans Administration Medical Center, Department of Medicine, San Diego, California 92161.

出版信息

Br J Haematol. 1990 Jun;75(2):262-7. doi: 10.1111/j.1365-2141.1990.tb02660.x.

Abstract

A variant of Band 3, the major protein of the erythrocyte membrane, was observed by Mueller and Morrison in 1977 in 6-7% of healthy blood donors on sodium dodecyl sulphate-polyacrylamide gel electrophoresis (SDS-PAGE) of erythrocyte membranes treated with pronase. Pronase treated red cells containing this first recognized variant [here designated 'Band 3-Memphis (m)'] section had two bands of about 63,000 and 60,000 Mr while pronase treated normal cells had only the lighter Mr band. The present study includes data on the frequency of variants resembling Band 3-Memphis in patients of different ethnic groups and on random donors obtained earlier in Memphis. These variants were detected by the original method of Mueller and Morrison and were not associated with recognized clinical or haematological abnormalities. Significantly higher gene frequencies for the variants of the (m) type were observed in American Indians, African Americans and Filipinos than in Caucasians; putative heterozygotes and homozygotes were identified among each of these groups. The frequency of silent Band 3 polymorphisms in different populations should be considered in the interpretation of clinical findings associated with the presence of Band 3 variants.

摘要

1977年,穆勒和莫里森在用链霉蛋白酶处理红细胞膜的十二烷基硫酸钠-聚丙烯酰胺凝胶电泳(SDS-PAGE)中,在6%-7%的健康献血者中观察到红细胞膜主要蛋白质带3的一种变体。用链霉蛋白酶处理过的含有这种最初识别的变体(此处命名为“带3-孟菲斯(m)”)的红细胞在电泳图谱上有两条分别约为63000和60000道尔顿的条带,而用链霉蛋白酶处理过的正常细胞只有较轻的那条带。本研究包含了不同种族患者以及孟菲斯地区早期随机献血者中类似带3-孟菲斯变体出现频率的数据。这些变体是通过穆勒和莫里森最初的方法检测到的,并且与已确认的临床或血液学异常无关。在美国印第安人、非裔美国人和菲律宾人中观察到(m)型变体的基因频率显著高于白种人;在这些群体中均鉴定出了假定的杂合子和纯合子。在解释与带3变体存在相关的临床发现时,应考虑不同人群中沉默带3多态性的频率。

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