Extensive linkage disequilibrium in small human populations in Eurasia
Extensive linkage disequilibrium in small human populations in Eurasia
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DOI：
10.1086/339258
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发表时间：
2002-03-01
影响因子：
9.8
通讯作者：
Pääbo, S
中科院分区：
文献类型：
--
作者：
Kaessmann, H;Zöllner, S;Pääbo, S
研究了欧亚大陆北部两个小的食物采集种群--埃文基人和萨米人--以及两个较大的食物生产种群--芬兰人和瑞典人--的连锁不平衡程度。总共有5个基因的50个单核苷酸多态(SNPs)用实时焦磷酸DNA测序进行了基因分型，而14个微卫星在两个X染色体区域进行了基因分型。此外，对线粒体DNA的高变区I进行了测序，以揭示人群的人口学历史。SNP数据以及微卫星数据显示，与芬兰人和瑞典人相比，埃文基和萨米人的LD水平很高。在埃文基和萨米人，线粒体DNA序列变异与随着时间推移而保持的种群规模是一致的，但在芬兰人和瑞典人中，线粒体DNA序列变异表明种群规模扩大。此外，芬兰人和瑞典人在SNP等位基因和单倍型频率分布上的相似性表明，这两个群体可能具有最近的共同起源。这些发现表明，像埃文基人和萨米人这样的人群，而不是芬兰人，可能特别适合对常见的复杂疾病进行初步的粗略绘制。
The extent of linkage disequilibrium (LD) was studied in two small food-gathering populations-Evenki and Saami- and two larger food-producing populations-Finns and Swedes-in northern Eurasia. In total, 50 single-nucleotide polymorphisms (SNPs) from five genes were genotyped using real-time pyrophosphate DNA sequencing, whereas 14 microsatellites were genotyped in two X-chromosomal regions. In addition, hypervariable region I of the mtDNA was sequenced to shed light on the demographic history of the populations. The SNP data, as well as the microsatellite data, reveal extensive levels of LD in Evenki and Saami when compared to Finns and Swedes. mtDNA-sequence variation is compatible with constant population size over time in Evenki and Saami but indicates population expansion in Finns and Swedes. Furthermore, the similarity between Finns and Swedes in SNP allele- and haplotype-frequency distributions indicate that these two populations may share a recent common origin. These findings suggest that populations such as the Evenki and the Saami, rather than the Finns, may be particularly suited for the initial coarse mapping of common complex diseases.