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
ABSTRACT
Objective This research is to assess the heterozygosity of Tbx1 gene on 22q11 2 in the patients with conotruncal heart malformation.Methods By fluorescence in situ hybridization (FISH) with partial segment of Tbx1 gene, we examined 22 patients with conotruncal heart malformation including 5 syndromic cases and 17 isolated cases. Northern blot was performed with RNA of 50 human tissues.Results Two of 5 syndromic patients had chromosome 22q11 2 hemizygote microdeletion of the Tbx1 gene, while 17 isolated patients did not show such deletion. Northern blot showed that there were Tbx1 gene positive expression in skeletal muscle, testis, lung and fetal heart.Conclusions Our study suggests that Tbx1 gene may be one of the pathogenic gene related to CATCH22.Association of the Tbx1 gene and conotruncal heart teratogenic gene is to be further detected in gene mutation of patients without heterozygosity deletion.