|
Mental retardation (Mental retardation, MR), also known as mental retardation ( intellectual disability , ID ) , based on cognitive dysfunction and lack of social adaptability neuropsychiatric disease characterized , in the crowd in the incidence rate of 1 % to 3 % , mainly during development , serious harm to the day-to-day life . China's central and western Shaanxi , Hubei , Gansu, Henan Qinling - Bashan region is one of China's major poverty-stricken areas , the MR high incidence of the disease , and therefore this region MR studies of genetic disease and the cause of the disease gene Search is particularly important. Has been reported to confirmed ( the the trafficking protein Particle CompleX 9 ) gene TRAPPC9 is a further cause of MR autosomal recessive gene , its encoded protein TRAPPC9 also called the NIBP ( NIK- and IKKb - binding protein ) , to participate in the process of vesicular transport , while the enhanced TNFa- induced NF-kB activation function . The papers from the gene level to explore TRAPPC9 gene polymorphism and the Qinba mountain areas Han population MR correlation . Select 7 TRAPPC9 genes on SNP polymorphic marker loci ( which Rs3735803 and Rs3735802 situated to exon , Rs4736095 , Rs2233230 , Rs4736168 , Rs7010437 and Rs2977456 located in intron ), of the mountains of ShanNanQinBa 176 Han core pedigree (MR patients and parents ) by PCR-SSCP and PCR-RFLP technique measured genotypes , application FBAT software passed imbalance ( TDT ) haplotype association analysis detected judge gene polymorphism with MR correlation . The results showed that the seven marker loci allele transmission disequilibrium ( p gt; 0.05 ) do not exist in all pedigrees . Linkage disequilibrium (LD) test results show Rs3735802 , Rs3735803 and Rs2977456 three point linkage disequilibrium (D 'gt; 0.8), further analysis can be used for the 176 core haplotype association analysis to detect pedigrees, the three loci consisting of haplotypes with MR nor there is a correlation ( the Bonferroni corrected p - GT ; 0.05) . The study results suggest TRAPPC9 gene genetic markers the Qinba mountain MR correlation does not exist , may not lead to disease susceptibility genes in the region MR .
|