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Mutations of connexin43 in fetuses with congenital heart malformations / 中华医学杂志(英文版)
Chinese Medical Journal ; (24): 971-976, 2005.
Article in English | WPRIM | ID: wpr-288315
ABSTRACT
<p><b>BACKGROUND</b>Gap 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.</p><p><b>METHODS</b>Cx43 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.</p><p><b>RESULTS</b>Eight 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.</p><p><b>CONCLUSIONS</b>Mutations of Cx43 may be associated with congenital conotruncal anomalies. PCR-SSCP is an effective method for screening the mutations of Cx43.</p>
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Full text: Available Index: WPRIM (Western Pacific) Main subject: Polymerase Chain Reaction / Sequence Analysis, DNA / Connexin 43 / Polymorphism, Single-Stranded Conformational / Fetus / Genetics / Heart Defects, Congenital / Metabolism / Mutation Limits: Humans Language: English Journal: Chinese Medical Journal Year: 2005 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Polymerase Chain Reaction / Sequence Analysis, DNA / Connexin 43 / Polymorphism, Single-Stranded Conformational / Fetus / Genetics / Heart Defects, Congenital / Metabolism / Mutation Limits: Humans Language: English Journal: Chinese Medical Journal Year: 2005 Type: Article