| Does Ser364Pro mutation of connexin 43 exist in Taiwanese patients with Ivemark syndrome? | |
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MedLine Citation:
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PMID: 11037645 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: A previous study by Britz-Cunningham et al (N Engl J Med, 1995) indicated that a mutation of the connexin 43 (CX43) gap junction gene might be responsible for Ivemark syndrome. Ser364Pro substitution (TCA-->CCA) is the most common mutation located in the cytoplasmic tail domain of CX43. This domain may be an important part of the conductance channel of the gap junction. It may, therefore, result in heart anomalies and situs inversus during embryonic development, resulting in Ivemark syndrome. METHODS: We investigated 10 patients with Ivemark syndrome, 10 healthy individuals, one patient with Kartagener syndrome and one with polysplenia and situs inversus but without heart anomaly for this mutation. Seminested polymerase chain reaction (PCR) was performed using a DNA template from DNA extracted from peripheral blood cells. Direct sequencing was done after purification of the second round of PCR products. Then, the sequence was compared with the last 402 bp of the cDNA-coding region of CX43. RESULTS: No base changes were found in the patients with Ivemark syndrome or other patient groups at the previously reported CX43 residues of Thr326, Gln352, Ser364, Ser365 and Ser373. CONCLUSIONS: The results indicate that Ser364Pro mutation of CX43 did not exist in the 10 Taiwanese patients with Ivemark syndrome. Other genes responsible for the Ivemark syndrome should be further investigated. |
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Authors:
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W C Chen; F J Tsai; J Y Wu; H C Wu; C W Li |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Zhonghua yi xue za zhi = Chinese medical journal; Free China ed Volume: 63 ISSN: 0578-1337 ISO Abbreviation: Zhonghua Yi Xue Za Zhi (Taipei) Publication Date: 2000 Sep |
Date Detail:
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Created Date: 2000-11-03 Completed Date: 2000-11-03 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0005327 Medline TA: Zhonghua Yi Xue Za Zhi (Taipei) Country: CHINA (REPUBLIC: 1949- ) |
Other Details:
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Languages: eng Pagination: 691-5 Citation Subset: IM |
Affiliation:
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Department of Urology, China Medical College Hospital, School of Medicine, China Medical College, Taichung, Taiwan, ROC. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Connexin 43 / genetics* Female Heart Defects, Congenital / genetics* Humans Male Mutation* Retrospective Studies Spleen / abnormalities* Syndrome |
| Chemical | |
Reg. No./Substance:
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0/Connexin 43 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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