Objectives: The higher prevalence of nonspecific mental retardation (NSMR) presents an important socioeconomic and medical issue for families and the whole QinBa region in China. The obvious family aggregation and high heritability indicated that genetic causes play a role in the NSMR population in QinBa. This study discusses the relationship between Xq12-Xq23 region and NSMR in the QinBa area.
Method: We chose six short tandem repeats - DXS7132, DXS6979, DXS1191, DXS1230, DXS1072, and DXS6804, located in Xq12-Xq23 - and analyzed the distribution difference of their alleles between the NSMR and control boys.
Results: A significant allele distribution difference was found between NSMR and control boys (all P<0.05) for DXS7132, DXS1191, DXS1230, DXS1072, and DXS6804 but not for DXS6979.
Conclusion: Our results suggest that Xq12-Xq23 may be the candidate region where there are one or more loci, linked to NSMR in the QinBa region. Further study needs to be carried out for locating the gene responsible for NSMR in this region and a larger sample size and more genetic markers are needed.