Mutations of connexin43 in fetuses with congenital heart malformations.
- Author:
Ping CHEN
1
;
Li-jian XIE
;
Guo-ying HUANG
;
Xiao-qing ZHAO
;
Cai CHANG
Author Information
- Publication Type:Journal Article
- MeSH: Connexin 43; genetics; Fetus; metabolism; Heart Defects, Congenital; genetics; Humans; Mutation; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Sequence Analysis, DNA
- From: Chinese Medical Journal 2005;118(12):971-976
- CountryChina
- Language:English
-
Abstract:
BACKGROUNDGap junction channels formed by connexin43 (Cx43) protein are important in cardiac morphogenesis, and Cx43 gene is thought to be associated with congenital heart malformation (CHM). This study was undertaken to detect the mutations of Cx43 in fetuses with CHM.
METHODSCx43 extron DNA was amplified by PCR from 16 fetuses with a variety of CHM. The PCR products were analyzed by SSCP and DNA sequencing. Thirty children who had no CHM were selected as controls.
RESULTSEight homozygous mutations of Cx43 were observed in a fetus with double outlet right ventricule (DORV), five of the 8 mutations were missense mutations including Arg239Trp, Ser251Thr, Ala253Pro, Pro283Leu and Thr290Asn, and the remaining 3 were silent polymorphisms including Gly252Gly, Pro256Pro and Thr275Thr. No mutations were found in other fetuses and the control group.
CONCLUSIONSMutations of Cx43 may be associated with congenital conotruncal anomalies. PCR-SSCP is an effective method for screening the mutations of Cx43.
