Suppr超能文献

苯丙酮尿症的人类学意义。

Anthropological significance of phenylketonuria.

作者信息

Saugstad L F

出版信息

Clin Genet. 1975 Jan;7(1):52-61.

PMID:803884
Abstract

The highest incidence rates of phenylketonuria (PKU) have been observed in Ireland and Scotlant. Parents heterozygous for PKU in Norway differ significantly from the general population in the Rhesus, Kell and PGM systems. The parents investigated showed an excess of Rh negative, Kell plus and PGM type 1 individuals, which makes them similar to the present populations in Ireland and Scotlant. It is postulated that the heterozygotes for PKU in Norway are descended from a completely assimilated sub-population of Celtic origin, who came or were brought here, 1ooo years ago. Bronze objects of Western European (Scottish, Irish) origin, found in Viking graves widely distributed in Norway, have been taken as evidence of Vikings returning with loot (including a number of Celts) from Western Viking settlements. The continuity of residence since the Viking age in most habitable parts of Norway, and what seems to be a nearly complete regional relationship between the sites where Viking graves contain western imported objects and the birthplaces of grandparents of PKUs identified in Norway, lend further support to the hypothesis that the heterozygotes for PKU in Norway are descended from a completely assimilated subpopulation. The remarkable resemblance between Iceland and Ireland, in respect of several genetic markers (including the Rhesus, PGM and Kell systems), is considered to be an expression of a similar proportion of people of Celtic origin in each of the two countries. Their identical, high incidence rates of PKU are regarded as further evidence of this. The significant decline in the incidence of PKU when one passes from Ireland, Scotland and Iceland, to Denmark and on to Norway and Sweden, is therefore explained as being related to a reduction in the proportion of inhabitants of Celtic extraction in the respective populations.

摘要

苯丙酮尿症(PKU)的发病率在爱尔兰和苏格兰最高。挪威PKU杂合子父母在恒河猴、凯尔和磷酸葡萄糖变位酶(PGM)系统方面与普通人群有显著差异。接受调查的父母中,Rh阴性、凯尔阳性和PGM 1型个体过多,这使他们与爱尔兰和苏格兰的当前人群相似。据推测,挪威PKU杂合子的祖先是一个完全同化的凯尔特人后裔亚群体,他们在1000年前来到或被带到这里。在挪威广泛分布的维京人坟墓中发现的西欧(苏格兰、爱尔兰)原产青铜器,被视为维京人带着战利品(包括一些凯尔特人)从西部维京定居点返回的证据。自维京时代以来,挪威大部分宜居地区居民的连续性,以及维京人坟墓中含有西方进口物品的地点与挪威确定的PKU患者祖父母出生地之间近乎完全的区域关系,进一步支持了挪威PKU杂合子来自一个完全同化亚群体的假设。冰岛和爱尔兰在几个基因标记(包括恒河猴、PGM和凯尔系统)方面的显著相似性,被认为是两国凯尔特人后裔比例相似的一种表现。它们相同的高PKU发病率被视为这一点的进一步证据。因此,当从爱尔兰、苏格兰和冰岛到丹麦,再到挪威和瑞典时,PKU发病率的显著下降被解释为与各人群中凯尔特血统居民比例的降低有关。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验