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挪威的触珠蛋白亚型及不同人群中触珠蛋白亚型的综述。

Haptoglobin subtypes in Norway and a review of HP subtypes in various populations.

作者信息

Teige B, Olaisen B, Teisberg P

机构信息

Institute of Forensic Medicine, University of Oslo, Norway.

出版信息

Hum Hered. 1992;42(2):93-106. doi: 10.1159/000154048.

Abstract

Isofocusing and immunoblotting of reduced serum samples identify the common haptoglobin alpha-chain variants 1S, 1F, 2FS, 2SS, 2FF, 3, as well as several rare alpha- and beta-chain variants. The gene frequencies found in 6,668 unrelated persons involved in Norwegian paternity cases were: HP1S: 0.22, HP1F: 0.16, HP2FS: 0.58, HP2SS: 0.04, HP2FF: 0.004, HP3: 0.0004, other HP* alpha variants: 0.0004, HP* beta variants: 0.0008. The corresponding gene frequencies in 153 unrelated Norwegian Saamis (Lapps) were: HP1S: 0.19, HP1F: 0.07, HP2FS: 0.70, HP2SS: 0.04. Norwegians and Norwegian Saamis differed both in phenotype and allele distribution. An earlier Norwegian population study has shown a lower HP*1 frequency in the north than in the south. This regional difference in haptoglobin gene distribution was reflected in the present material as a lower 1F frequency, indicating a Saamish influence in northern Norway. Furthermore, the relatively low 2FF frequency in the north coincides with the lack of observed 2FF genes in the Saamish population. Non-Scandinavians involved in Norwegian paternity cases did not differ from the rest of the material. A review of published haptoglobin gene frequencies shows the 1F frequency to be a good indicator of ethnic origin, and that 2FF and 2SS frequency determinations may also be valuable in genetic population studies.

摘要

对还原血清样本进行等聚焦和免疫印迹分析,可鉴定出常见的触珠蛋白α链变体1S、1F、2FS、2SS、2FF、3,以及几种罕见的α链和β链变体。在参与挪威亲子鉴定案件的6668名无血缘关系的个体中发现的基因频率如下:HP1S:0.22,HP1F:0.16,HP2FS:0.58,HP2SS:0.04,HP2FF:0.004,HP3:0.0004,其他HPα变体:0.0004,HPβ变体:0.0008。在153名无血缘关系的挪威萨米人(拉普人)中相应的基因频率为:HP1S:0.19,HP1F:0.07,HP2FS:0.70,HP2SS:0.04。挪威人和挪威萨米人在表型和等位基因分布上均存在差异。挪威早期的一项人群研究表明,北部地区的HP*1频率低于南部地区。触珠蛋白基因分布的这种区域差异在本研究材料中表现为1F频率较低,表明挪威北部受到了萨米人的影响。此外,北部地区相对较低的2FF频率与在萨米人群体中未观察到2FF基因相吻合。参与挪威亲子鉴定案件的非斯堪的纳维亚人与其他材料无差异。对已发表的触珠蛋白基因频率的综述表明,1F频率是种族起源的良好指标,并且2FF和2SS频率的测定在遗传群体研究中可能也很有价值。

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