TAILIEUCHUNG - Báo cáo khoa hoc : Assessing the patterns of linkage disequilibrium in genic regions of the human genome

We used the genotyping data generated by the International HapMap Project to study the patterns of linkage disequilibrium (LD) in human genic regions. LD patterns for 11 998 genes from 11 HapMap populations were identified by analyzing the distribution of haplotype blocks. | IFEBS Journal Assessing the patterns of linkage disequilibrium in genic regions of the human genome Peng Sun1 z Ruijie Zhang1 z Yongshuai Jiang1 z Xing Wang1 Jin Li1 Hongchao Lv1 Guoping Tang1 Xiaodan Guo1 Xianwen Meng1 Haikun Zhang1 and Ruimin Zhang2 1 College of Bioinformatics Science and Technology Harbin MedicalUniversity China 2 The Second Affiliated Hospitalof Harbin MedicalUniversity China Keywords haplotype block human evolution linkage disequilibrium population genetics single nucleotide polymorphisms Correspondence Ruijie Zhang College of Bioinformatics Science and Technology Harbin Medical University Harbin 150086 China Fax 86 0451 86650721 Tel 86 0451 86669617 E-mail zhangruijie2009@ Ruimin Zhang The Second Affiliated Hospital of Harbin Medical University Harbin 150086 China Fax 86 0451 86297061 Tel 86 0451 86297061 E-mail zhangrmokok@ Peng Sun Ruijie Zhang and Yongshuai Jiang contributed equally to this article Received 5 May 2011 revised 28 July 2011 accepted 4 August 2011 doi We used the genotyping data generated by the International HapMap Project to study the patterns of linkage disequilibrium LD in human genic regions. LD patterns for 11 998 genes from 11 HapMap populations were identified by analyzing the distribution of haplotype blocks. The genes were prioritized using LD levels. The results showed that there were significant differences in the degree of LD between genes. Genes with high or low LD the upper and lower quartiles of the LD levels fell into different Gene Ontology functional categories. The high LD genes clustered preferentially in the metabolic process macromolecule localization and cell-cycle categories whereas the low LD genes clustered in the developmental process ion transport and immune and regulation system categories. Furthermore we subdivided the genic region into 3 -UTR 5 -UTR and CDS coding region and compared the different LD patterns in these subregions. We found that

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