Abstract
To investigate the possible genetic association of nonsyndromic X-linked mental retardation (NS-XLMR) with FTSJ1 gene polymorphisms, a case–control association study was performed focusing on the Chinese Han population in the Qinba mountain region. Three common single nucleotide polymorphisms (SNPs) (rs2268954, rs2070991, rs5905692) in the gene were selected and genotyped using the polymerase chain reaction single-strand confirmation polymorphism (PCR–SSCP) method. Pairwise linkage disequilibrium (LD) analysis showed that the three SNPs were in strong LD (all D′ > 0.8). There were significant differences between cases and controls in allele frequency distribution of rs2268954 (P = 0.036), rs2070991 (P = 0.043), and rs5905692 (P = 0.014) and in the distributions of common haplotypes combined by these SNPs (global P = 0.01236) in male subjects. In female subjects, however, no positive results were found. Our results suggest a positive association between the genetic variants of the FTSJ1 gene and NS-XLMR in young male subjects in the Chinese Han population in the Qinba region.
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Acknowledgments
The authors sincerely thank all participants and researchers in this study. This work was supported by grants from the Tenth Five-Year Plan, National Tackle Problem Item (No.2001BA901A49), and Special Prophase Project on Basic Research of The National Department of Science and Technology (2007CB516702).
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Dai, L., Xing, L., Gong, P. et al. Positive association of the FTSJ1 gene polymorphisms with nonsyndromic X-linked mental retardation in young Chinese male subjects. J Hum Genet 53, 592–597 (2008). https://doi.org/10.1007/s10038-008-0287-x
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DOI: https://doi.org/10.1007/s10038-008-0287-x
