International Journal of
Genetics and Molecular Biology

  • Abbreviation: Int. J. Genet. Mol. Biol.
  • Language: English
  • ISSN: 2006-9863
  • DOI: 10.5897/IJGMB
  • Start Year: 2009
  • Published Articles: 131

Full Length Research Paper

The Genetic variants of IL1RAPL2 gene associated with non-specific mental retardation in Chinese children

Zhang Kejin1, He Bo1, Gong Pingyuan1, Gao Xiaocai1,2, Zheng Zijian1,2, Huang Shaoping3 and Zhang Fuchang1,2*
  1Key Laboratory of Resource Biology and Biotechnology in Western China (Northwest University) Ministry of Education, College of Life Science, Institute of Population and Health, Northwest University, Xi’an 710069, China. 2Institute of Applied Psychology, College of Public Management, Northwest University, Xi’an 710069, China. 3The 2nd Affiliated Hospital, Xi’an Jiaotong University, Xi’an 710004, China.
Email: [email protected]

  •  Accepted: 19 October 2011
  •  Published: 30 November 2011



The present study investigated the association between the genetic variants of IL1RAPL2 gene and Non-syndromic mental retardation (NSMR) in the children of QinBa region of China. Five common SNPs (rs5962434, rs5916817, rs3764765, and rs5962298 and rs9887672) of IL1RAPL2 were chosen and examined their individual genotype frequencies using the conventional polymerase chain reaction single strand conformation polymorphism (PCR-SSCP) method, and evaluated the association between these genetic polymorphisms and NSMR with the suitable bio-statistic software. Two SNPs (rs5962298 and rs9887672), whose alleles and genotypes distribution showed a significant differences between the control and NSMR groups (alleles: = 0.020 and 0.017; genotypes: = 0.025 and 0.053, respectively). Furthermore, the different gender effect was found out, when stratified the data set by the sex. Taken together, we provided substantial evidence that IL1RAPL2 conferred a NSMR susceptibility to children of Qinba region in China, and further work should been done.


Key words: Non-syndromic mental retardation, molecular genetics, association analysis, genetic variants


NSMR, nonspecific mental retardation; Co, controls