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首页> 外文期刊>Genomics >SNP identification, linkage disequilibrium, and haplotype analysis for a 200-kb genomic region in a Korean population.
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SNP identification, linkage disequilibrium, and haplotype analysis for a 200-kb genomic region in a Korean population.

机译：SNP鉴定，连锁不平衡和单倍型分析的朝鲜族人口的200 kb的基因组区域。

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摘要

Understanding patterns of linkage disequilibrium (LD) across genomes may facilitate association mapping studies to localize genetic variants influencing complex diseases, a recognition that led to the International Haplotype Mapping Project (HapMap). Divergent patterns of haplotype frequency and LD across global populations require that the HapMap database be supplemented with haplotype and LD data from additional populations. We conducted a pilot study of the LD and haplotype structure of a genomic region in a Korean population. A total of 165 SNPs were identified in a 200-kb region of 22q13.2 by direct sequencing. Unphased genotype data were generated for 76 SNPs in 90 unrelated Korean individuals. LD, haplotype diversity, and recombination rates were assessed in this region and compared with the HapMap database. The pattern of LD and haplotype frequencies of Korean samples showed a high degree of similarity with Japanese data. There was a strong correlation between high LD and low recombination frequency in this region. We found considerable similarities in local LD patterns between three Asian populations (Han Chinese, Japanese, and Korean) and the CEPH population. Haplotype frequencies were, however, significantly different between them. Our results should further the understanding of distinctive Korean genomic features and assist in designing appropriate association studies.
机译：了解整个基因组之间连锁不平衡（LD）的模式可能有助于进行关联作图研究，以定位影响复杂疾病的遗传变异，这一认识促成了国际单倍型作图计划（HapMap）。全球人群中单倍型频率和LD的不同模式要求HapMap数据库补充来自其他人群的单倍型和LD数据。我们对韩国人群的基因组区域的LD和单倍型结构进行了初步研究。通过直接测序，在22q13.2的200kb区域中总共鉴定出165个SNP。在90个不相关的韩国个体中产生了76个SNP的非分阶段基因型数据。在该区域评估LD，单倍型多样性和重组率，并与HapMap数据库进行比较。韩国样品的LD和单倍型频率的模式显示与日本数据高度相似。在该区域中，高LD与低重组频率之间具有很强的相关性。我们发现三个亚洲人口（汉族，日本人和韩国人）与CEPH人口在当地LD模式上有很大相似之处。但是，它们之间的单倍型频率却有显着差异。我们的结果应进一步了解韩国独特的基因组特征，并协助设计适当的关联研究。

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