A Study Of Association Of Microsatellite Polymorphisms In SATB2 Gene And Cleft Palate Only

Objective: To investigate SATB2 (special AT-rich sequence binding protein homeobox 2) microsatellite Marker distribution and the relationship between this gene and the genetic susceptibility of cleft palate only(CPO) in Hunan Hans.Methods: One microsatellite DNA Marker CA repeat (D2S311) was used as a genetic marker. Both case-control study and transmission disequilibrium test(TDT) as well as polymerase chain reaction(PCR)-denaturing polyacrylamide gel electrophoresis(PAGE) genotyping technique were used in 100 trios with CPO, 100 controls with CL, 100 controls with CLP, and 100 controls with healthy persons to conduct association analysis.Results:1. The allele frequencies of the CA repeat microsatelliteDNA(D2S311) in Hunan Hans normal population are in good agreement with Hardy-Weinberg equilibrium. The polymorphism information content and heterozygosity of CA repeat microsatellite DNA are 0. 812 and 0. 800 respectively.2. A case-control association analysis indicated that thedistribution of CA5 allele is the most common allele in researched population, CPO group is significantly higher than that of controls (P<0. 05). Genotype analysis indicates that distribution of CA5, 5 is the most common genotype in CPO population. The frequency of CA5, 5 is significantly higher than that of all controls (P<0. 05). But the genotype CA5, 5 frequency has no noticeable difference within CL , CLP and the normal control (P>0. 05).3. TDT analysis confirmed that CA5 allele in CPO group preferentially transmit to affected offspring (trans : untrans= 72 : 44, P<0. 05).4. Logistic regression analysis indicated significance a double dose of the CA5 allele but not significance for a single dose of one under assumption of HWE. It also appears that the analyses of the data indicate that the recessive model of inheritance is supported, either the CA5 itself or the CA5 acting as a marker for a disease allele or haplotype is being inherited in a recessive fashion.Conclusion:1. The microsatellite DNA Marker CA repeat (D2S311) is a goodgenetic marker.2. SATB2 gene is associated with CPO, and may be directly involved either in the etiology of CPO or in linkage disequilibrium with disease-predisposing sites.