Dataset Information

Single nucleotide polymorphism of NKX2-5 gene with sporadic congenital heart disease in Chinese Bai population.

ABSTRACT:

Background

Congenital heart disease (CHD) is the most common birth abnormality, especially for sporadic CHD. However, the etiology of sporadic CHD is largely unknown. NKX2-5, the earliest sign of cardiac progenitor cell differentiation, plays a key role in cardiac morphogenesis, and the mutation of this gene can cause sporadic CHD.

Purpose

To investigate the association of genetic variations of NKX2-5 with sporadic CHD in Chinese Bai people.

Methods

The whole 2 coding exons and flanking intron sequences of NKX2-5 gene were screened using DNA sequencing in 70 Chinese Bai patients with sporadic CHD and 136 healthy controls.