resequencing dcdc5 in the flanking region of an ld-snp derived from a kidney-yang deficiency syndrome family重测序dcdc5侧翼地区的ld-snp源自一个温缺陷综合症的家庭.pdfVIP

Hindawi Publishing Corporation Evidence-Based Complementary and Alternative Medicine Volume 2011, Article ID 215653, 7 pages doi:10.1155/2011/215653 Research Article Resequencing DCDC5 in the Flanking Region of an LD-SNP Derived from a Kidney-Yang Deficiency Syndrome Family Li Ping Zhou, Wei Wei Liu, Tian E. Zhang, Wei Hong Li, Ling Ling Tan, Wan Zhen Li, Yu Hua Qin, Hong Ya Yang, Azure Duan, Mi Qu Wang, and Wei Jun Ding Department of Fundamental Medicine, Chengdu University of Traditional Chinese Medicine, Chengdu 610075, China Correspondence should be addressed to Wei Jun Ding, tcmding@ Received 15 July 2010; Revised 17 February 2011; Accepted 24 February 2011 Copyright © 2011 Li Ping Zhou et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Objective. To explore the genetic traits of Kidney-yang deficiency syndrome (KDS). Design. Twelve KDS subjects and three spouses from a typical KDS family were recruited. Their genomic DNA samples were genotyped by Affymetrix 100K single-nucleotide polymorphism (SNP) arrays. The linkage disequilibrium (LD) SNPs were generated using GeneChip DNA analysis software (GDAS, Affymetrix). Genes located within 100 bp of the flanks of LD SNPs were mined via GeneView. 29 exons of the doublecortin domain containing 5 (DCDC5), a representative gene within the flank of an LD SNP, were resequenced. Results. Five LD SNPs display midrange linkage with KDS. Two genes with established functions, DCDC5 and Leucyl-tRNA synthetase, were mined in the flanks of LD SNPs. Resequencing of DCDC5 revealed a nonsynonymous variation, in which 3764T/A was replaced by C/G. Accordingly, the Ser1172 was