Heterozygosity Microdeletion of Tbx1 Gene at 22q11.2 in Conotruncal Heart Malformation Patients / 中国医师杂志

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.