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 Ser1172 was substituted by Pro1172. 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.

Population-based associations between progression of normal-tension glaucoma and Yang-deficient constitution among Chinese persons

“…Lu et al 27 studied a family with Yang-deficient constitution and found that all of the children and 10 out of 14 grandchildren (71.4%) of two Yang-deficient individuals were also Yang-deficient. Zhou et al 28 showed further evidence for the genetic basis of this constitution by finding genomic variations in DCDC5 associated with Yang-deficiency through linkage disequilibrium single nucleotide polymorphism gene sequencing on 12 family members and three spouses with Yang-deficiency syndrome. A genome-wide association study on Yang-deficient constitution by Yao et al 29 showed that Yang-deficient constitution had polygenic genetic characteristics, and found that polymorphism of RGS6, mGluR5, GAPDHL19 and IKZF1 genes were related to changes in cyclic AMP and cyclic guanosine monophosphate levels, memory, metabolic energy state and immune function respectively in Yang-deficient cohorts.…”

Clinical Applications of Omics Technologies on ZHENG Differentiation Research in Traditional Chinese Medicine

“…Moreover, Zhou et al and Ding et al have detected the linkage disequilibrium (LD) SNPs to explore the genetic traits of kidney-Yang deficiency ZHENG and found that kidney-Yang deficiency ZHENG is involved in special LD SNPs in the intragenic level and proved doublecortin domain containing 5 and other genes surrounding these SNPs display some relationships with key symptoms of kidney-Yang deficiency ZHENG [77, 78]. …”