title: Resequencing DCDC5 in the Flanking Region of an LD-SNP Derived from a Kidney-Yang Deficiency Syndrome Family.
abstract: 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 Ser(1172) was substituted by Pro(1172). The S1172P substitution effect was evaluated as "possibly damaging" by PolyPhen. Conclusion. We have identified a genomic variation of DCDC5 based on the LD SNPs derived from a KDS family. DCDC5 and other genes surrounding these SNPs display some relationships with key symptoms of KDS.
authors.affiliation: Department of Fundamental Medicine, Chengdu University of Traditional Chinese Medicine, Chengdu 610075, China.
authors.forename: Li Ping
authors.initials: LP
authors.lastname: Zhou
authors.forename: Wei Wei
authors.initials: WW
authors.lastname: Liu
authors.forename: Tian E
authors.initials: TE
authors.lastname: Zhang
authors.forename: Wei Hong
authors.initials: WH
authors.lastname: Li
authors.forename: Ling Ling
authors.initials: LL
authors.lastname: Tan
authors.forename: Wan Zhen
authors.initials: WZ
authors.lastname: Li
authors.forename: Yu Hua
authors.initials: YH
authors.lastname: Qin
authors.forename: Hong Ya
authors.initials: HY
authors.lastname: Yang
authors.forename: Azure
authors.initials: A
authors.lastname: Duan
authors.forename: Mi Qu
authors.initials: MQ
authors.lastname: Wang
authors.forename: Wei Jun
authors.initials: WJ
authors.lastname: Ding