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Article: Is the c.3G>C mutation in the succinate dehydrogenase subunit D (SDHD) gene due to a founder effect in Chinese head and neck paraganglioma patients?

TitleIs the c.3G>C mutation in the succinate dehydrogenase subunit D (SDHD) gene due to a founder effect in Chinese head and neck paraganglioma patients?
Authors
Issue Date2011
PublisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www.laryngoscope.com/
Citation
Laryngoscope, 2011, v. 121 n. 8, p. 1760-1764 How to Cite?
AbstractObjectives/Hypothesis: Three Chinese patients with head and neck paragangliomas have been reported to carry the c.3G>C mutation in the succinate dehydrogenase subunit D (SDHD) gene. In addition, in our hospital, two further patients were identified who have the same mutation. It is unclear whether the c.3G>C mutation in Chinese patients is a recurrent mutation or if it is due to a founder effect. We conducted haplotype analysis on these patients to answer this question. Study Design: Individual case-control study. Methods: Germ-line mutations were confirmed in the patients and their families examined in this study using direct sequencing. We also constructed and analyzed haplotypes in four Chinese families. Genotype frequencies were compared to the control group. Results: Three of four families shared the same haplotype, which rarely occurred in the control group. The last family shared a very short area on the physical map with the other three families. Conclusions: There is a founder effect in Chinese head and neck paraganglioma patients carrying the SDHD c.3G>C mutation. Copyright © 2011 The American Laryngological, Rhinological, and Otological Society, Inc.
Persistent Identifierhttp://hdl.handle.net/10722/148642
ISSN
2015 Impact Factor: 2.272
2015 SCImago Journal Rankings: 1.342
ISI Accession Number ID
Funding AgencyGrant Number
National Natural Science Foundation of China81070781
Key Laboratory of Endocrine and Metabolic Diseases, Ministry of Health of China
Funding Information:

This work was supported by the National Natural Science Foundation of China (grant 81070781) and Key Laboratory of Endocrine and Metabolic Diseases, Ministry of Health of China (grant for general projects in 2010). The authors have no other funding, financial relationships, or conflicts of interest to disclose.

References

 

DC FieldValueLanguage
dc.contributor.authorZha, Yen_US
dc.contributor.authorChen, XMen_US
dc.contributor.authorLam, CWen_US
dc.contributor.authorLee, SCen_US
dc.contributor.authorTong, SFen_US
dc.contributor.authorGao, ZQen_US
dc.date.accessioned2012-05-29T06:14:18Z-
dc.date.available2012-05-29T06:14:18Z-
dc.date.issued2011en_US
dc.identifier.citationLaryngoscope, 2011, v. 121 n. 8, p. 1760-1764en_US
dc.identifier.issn0023-852Xen_US
dc.identifier.urihttp://hdl.handle.net/10722/148642-
dc.description.abstractObjectives/Hypothesis: Three Chinese patients with head and neck paragangliomas have been reported to carry the c.3G>C mutation in the succinate dehydrogenase subunit D (SDHD) gene. In addition, in our hospital, two further patients were identified who have the same mutation. It is unclear whether the c.3G>C mutation in Chinese patients is a recurrent mutation or if it is due to a founder effect. We conducted haplotype analysis on these patients to answer this question. Study Design: Individual case-control study. Methods: Germ-line mutations were confirmed in the patients and their families examined in this study using direct sequencing. We also constructed and analyzed haplotypes in four Chinese families. Genotype frequencies were compared to the control group. Results: Three of four families shared the same haplotype, which rarely occurred in the control group. The last family shared a very short area on the physical map with the other three families. Conclusions: There is a founder effect in Chinese head and neck paraganglioma patients carrying the SDHD c.3G>C mutation. Copyright © 2011 The American Laryngological, Rhinological, and Otological Society, Inc.en_US
dc.languageengen_US
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www.laryngoscope.com/en_US
dc.relation.ispartofLaryngoscopeen_US
dc.subject.meshAdulten_US
dc.subject.meshChinaen_US
dc.subject.meshFemaleen_US
dc.subject.meshFounder Effecten_US
dc.subject.meshGenetics, Populationen_US
dc.subject.meshGerm-Line Mutationen_US
dc.subject.meshHaplotypesen_US
dc.subject.meshHead And Neck Neoplasms - Geneticsen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshMicrosatellite Repeatsen_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshParaganglioma - Geneticsen_US
dc.subject.meshPoint Mutationen_US
dc.subject.meshSuccinate Dehydrogenase - Geneticsen_US
dc.titleIs the c.3G>C mutation in the succinate dehydrogenase subunit D (SDHD) gene due to a founder effect in Chinese head and neck paraganglioma patients?en_US
dc.typeArticleen_US
dc.identifier.emailLam, CW:ching-wanlam@pathology.hku.hken_US
dc.identifier.authorityLam, CW=rp00260en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1002/lary.21850en_US
dc.identifier.pmid21792967-
dc.identifier.scopuseid_2-s2.0-79960943022en_US
dc.identifier.hkuros201627-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-79960943022&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume121en_US
dc.identifier.issue8en_US
dc.identifier.spage1760en_US
dc.identifier.epage1764en_US
dc.identifier.isiWOS:000293803400028-
dc.publisher.placeUnited Statesen_US

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