title: [Studies on the mutation and expression of TBX5 gene in human simple congenital heart disease].
abstract: This work is to investigate the mutation and expression of TBX5 gene in human simple congenital heart disease. The mutations of eight exons of TBX5 gene in 61 CHD family members (a total of 216 individuals including 65 patients and 151 normal relatives) were examined by PCR-DGGE. Using beta-actin as internal control, the differential expression between 34 myocardium samples from simple congenital heart disease patients and three normal controls was conducted by RT-PCR. There is no mutation detected in all samples; The mRNA expression levels of TBX5 gene show descent tendency in samples of simple congenital heart disease compared with normal controls. The mutations in coding region of TBX5 gene do not cause human simple congenital heart disease, but the abnormality in transcription level of TBX5 gene maybe a kind of mechanism causing human simple congenital heart disease.
authors.affiliation: Department of Medical Genetics, China Medical University, Shenyang 110001, China. gonglig@sina.com
authors.forename: Li-Guo
authors.initials: LG
authors.lastname: Gong
authors.forename: Guang-Rong
authors.initials: GR
authors.lastname: Qiu
authors.forename: Guang-Bin
authors.initials: GB
authors.lastname: Qiu
authors.forename: Guang
authors.initials: G
authors.lastname: He
authors.forename: Kai-Lai
authors.initials: KL
authors.lastname: Sun