PMID: 20654020Jul 27, 2010Paper

Mutation analysis of Cited2 in patients with congenital heart disease

Zhonghua er ke za zhi. Chinese journal of pediatrics
Xiaofei YangJie Tian

Abstract

To explore mutation of Cited2 gene coding strand in Chinese patients with congenital heart disease (CHD). DNA was extracted from the blood samples of 120 nonhomologous and various CHD patients and 100 healthy children. The sequence of coding regions of Cited2 was amplified by PCR and compared to those in the GeneBank after sequencing to identify the mutations. The family of the samples who have Cited2 mutations were investigated as well. Clustal W software was applied for conservative analysis of the altered amino acids. Three new mutations of Cited2 coding strand were found in 4 CHD patients. Two point mutations were first identified respectively in two patients, one patient with mirror image dextrocardia and tetralogy of Fallot (c.550 G > A), another with aortic stenosis (c.574 A > G). Apart from this, the same deletion (c.573-578del6) was first detected in another two patients, one with ventricular septal defect and atrial septal defect, the other with aortic stenosis and pulmonary stenosis. All the mutations resulted in the protein changes (p.Gly184Ser; p.Ser192Gly; p.Ser192fs). None of these changes were detected in the control group. This study showed that there are 3 brand-new gene mutations as demonstrated by sequencing...Continue Reading

Related Concepts

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.