Heterozygosity Microdeletion of Tbx1 Gene at 22q11.2 in Conotruncal Heart Malformation Patients
- VernacularTitle:心脏圆锥干畸形患者Tbx1基因杂合性缺失研究
- Author:
Yifeng YANG
;
Dongxu HU
;
Jiahui XIA
- Publication Type:Journal Article
- Keywords:
Heart Defect, Congenital;
Tbx1 gene;
Gene deletion;
Heterozygote
- From:
Journal of Chinese Physician
2001;0(09):-
- CountryChina
- Language:Chinese
-
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.
