亚太地区苹果酸脱氢酶类型及新表型描述

Malate dehydrogenase types in the Asian-Pacific area, and a description of new phenotypes.

作者信息

Blake N M

出版信息

Hum Genet. 1978 Jul 12;43(1):69-80. doi: 10.1007/BF00396480.

Abstract

A survey of more than 21 000 haemolysates from blood samples collected in various parts of south and southeast Asia, Australasia and the Western Pacific and examined in this laboratory has revealed several new alleles controlling variants of sMDH; in addition, further information has been provided on the distribution of sMDH3 in New Guinea. Two of the variant alleles, sMDH3 and sMDH6, achieve polymorphic frequency in various populations. sMDH3 is widely distributed in New Guinea, with highest frequencies in the Eastern Highlands. The pattern of its distribution suggests the mutant arose originally in a Papuan-speaking population. So far, sMDH6 has been detected only in Micronesians from a number of islands in the Carolines. A single example of another new variant, sMDH 5-1, and two examples of a slow variant, sMDH 7-1, were detected in samples from Iran and Singapore, respectively. No examples of mMDH variants were found in a total of 652 placental extracts from Papua New Guinea and Australia.

摘要

对从南亚、东南亚、澳大拉西亚和西太平洋各地采集并在本实验室检测的21000多份血液样本的溶血产物进行的一项调查，发现了几个控制sMDH变异体的新等位基因；此外，还提供了关于sMDH3在新几内亚分布的更多信息。其中两个变异等位基因sMDH3和sMDH6在不同人群中达到了多态频率。sMDH3在新几内亚广泛分布，在东部高地频率最高。其分布模式表明该突变最初出现在说巴布亚语的人群中。到目前为止，仅在加罗林群岛一些岛屿的密克罗尼西亚人中检测到sMDH6。在分别来自伊朗和新加坡的样本中，检测到另一个新变异体sMDH 5-1的一个实例和一个慢变异体sMDH 7-1的两个实例。在来自巴布亚新几内亚和澳大利亚的总共652份胎盘提取物中未发现mMDH变异体的实例。