Association analysis between TBX1 gene and human conotruncal defects / 中国实用内科杂志

ABSTRACT

Objective Two single nucleotide polymorphisms(SNPs)in TBX1 gene,G2857C(rs737868)and G2963A(rs28649236),were chosen to investigate their distribution in contruncal defects(CTD)patients and normal controls in order to determine the relationship between TBX1 gene and CTD.Methods By PCR-RFLP,genotypes of these two SNPs were analyzed in 100 patients with CTD and 100 normal controls during Mar.2004 to May.2006. 2 test was applied to analyze the genotype frequency and allele frequency between CTD groups and control groups.Results Remarkable significance were observed at G2963A between CTD groups and normal controls,the G allele frequency in CTD groups were much higher than that in normal controls(?2=5.30,P