Csx/Nkx 2.5 gene expression in embryonic hearts and its mutation in congenital heart disease / 中华围产医学杂志

ABSTRACT

Objective To explore the Csx/Nkx 2.5 gene expression in the heart during the embryonic period and its mutation in subjects with congenital heart disease(CHD). Methods Immunohistochemistry was used to reveal the Csx/Nkx 2.5 gene expression, and PCR-SSCP-silver staining and DNA sequencing for mutation. Sixty-three embryos or fetus, 126 children with congenital heart diseases and 30 normal controls were included in the study. Results Elevated expression of Csx/Nkx 2.5 gene was found in atrium and trabecular of ventricle. After 16 weeks of gestation, the expression in atrium was stable, while slightly reduced in the trabecular. The expression in the ventricle was lower than that in the atrium in early embryonic stage followed by continuous increase which was most remarkable in 13~16 weeks and kept stable after 16 weeks. No expression of Csx/Nkx 2.5 was detected in epicardium. Three different kinds of gene polymorphisms in the third base of the 21st amino acid codon were found in all subjects:A,G,A/G. Conclusions Gene Csx/Nkx 2.5 plays an important role during the fetal heart development and its expression varies in different parts of the heart during different period in fetal development. Neither the sporadic nor the CHD cases showed any mutations in this study.