[Association between GATA-4 mutations and congenital cardiac septal defects in Han Chinese patients].

Abstract

OBJECTIVE:

To elucidate the association between GATA-4 gene mutations and congenital cardiac septal defects in Han Chinese patients.

METHODS:

Fifty Han Chinese patients with congenital cardiac septal defects and 100 normal subjects with the same ethnical background were studied. Total six exons and the intron-exon boundaries of GATA-4 were amplified by the polymerase chain reaction. The polymerase chain reaction products were purified and directly sequenced with automatic sequencer.

RESULTS:

Two novel heterozygous mutations were discovered in the GATA-4 gene of patients with congenital cardiac septal defects, His28Tyr in exon 2 and His436Tyr in exon 7 respectively, which were absent in the control population and not reported in the SNP database (http://www.ncbi.nlm.nih.gov/SNP).

CONCLUSION:

Our finding suggests that the mutations in the transcription factor GATA-4 may be related to congenital cardiac septal defects in Han Chinese patients.

• Authors: Ming-wu Chen, Yu-sheng Pang, Ying Guo, Bing-li Liu, Jie Shen, Huai-dong Song, Tang-wei Liu
• Journal: Zhonghua xin xue guan bing za zhi (Zhonghua Xin Xue Guan Bing Za Zhi) Vol. 37 Issue 5 Pg. 409-12 (May 2009) ISSN: 0253-3758 [Print] China
• PMID: 19781215 (Publication Type: Journal Article)

Chemical References

• GATA4 Transcription Factor

Topics

• Adolescent
• Adult
• Asian People (ethnology)
• Child
• Child, Preschool
• Exons
• Female
• GATA4 Transcription Factor (genetics)
• Genotype
• Heart Septal Defects (ethnology, genetics)
• Heterozygote
• Humans
• Infant
• Male
• Mutation
• Young Adult