Resequencing DCDC5 in the Flanking Region of an LD-SNP Derived from a Kidney-Yang Deficiency Syndrome Family
2011

Genetic Traits of Kidney-Yang Deficiency Syndrome

Sample size: 12 publication Evidence: moderate

Author Information

Author(s): Li Ping Zhou, Wei Jun Ding, Tan Ling Ling, Wang Mi Qu, Zhang Tian E., Li Wei Hong, Li Wan Zhen, Qin Yu Hua, Yang Hong Ya, Duan Azure, Wang Mi Qu, Ding Wei Jun

Primary Institution: Chengdu University of Traditional Chinese Medicine

Hypothesis

Do genetic alterations contribute to the development of Kidney-Yang Deficiency Syndrome (KDS)?

Conclusion

A genomic variation of the DCDC5 gene was identified, which may be related to key symptoms of KDS.

Supporting Evidence

  • Five LD SNPs were identified with midrange linkage to KDS.
  • Resequencing revealed a nonsynonymous variation in the DCDC5 gene.
  • The S1172P substitution in DCDC5 was evaluated as possibly damaging.
  • DCDC5 is involved in saccharide binding and energy metabolism.
  • Two genes with established functions were identified near the LD SNPs.

Takeaway

Scientists looked at the genes of people with a condition called Kidney-Yang Deficiency Syndrome and found a change in a gene that might be important for understanding the disease.

Methodology

Genomic DNA samples from KDS subjects were genotyped using SNP arrays, and the DCDC5 gene was resequenced.

Limitations

Only exons of DCDC5 were examined, and the study involved a small sample size from a single family.

Participant Demographics

Twelve KDS subjects and three healthy spouses from a typical KDS family.

Statistical Information

P-Value

p<0.05

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1155/2011/215653

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