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Article: Spectrum of CFTR mutations in Mexican cystic fibrosis patients: identification of five level mutations (W1098C, 846deIT, P750L, 4160insGGGC and 297-1G→A)

TitleSpectrum of CFTR mutations in Mexican cystic fibrosis patients: identification of five level mutations (W1098C, 846deIT, P750L, 4160insGGGC and 297-1G→A)
Authors
Issue Date2000
PublisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htm
Citation
Human Genetics, 2000, v. 106 n. 3, p. 360-365 How to Cite?
AbstractWe have analyzed 97 CF unrelated Mexican families for mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Our initial screening for 12 selected CFTR mutations led to mutation detection in 56.66% of the tested chromosomes. In patients with at least one unknown mutation after preliminary screening, an extensive analysis of the CFTR gene by single stranded conformation polymorphism (SSCP) or by multiplex heteroduplex (mHET) analysis was performed. A total of 34 different mutations representing 74.58% of the CF chromosomes were identified, including five novel CFTR mutations: W1098C, P750L, 846delT, 4160insGGGG and 297-1G→A. The level of detection of the CF mutations in Mexico is still lower than that observed in other populations with a relatively low frequency of the ΔF508 mutation, mainly from southern Europe. The CFTR gene analysis described here clearly demonstrated the high heterogeneity of our CF population, which could be explained by the complex ethnic composition of the Mexican population, in particular by the strong impact of the genetic pool from southern European countries.
Persistent Identifierhttp://hdl.handle.net/10722/44359
ISSN
2015 Impact Factor: 5.138
2015 SCImago Journal Rankings: 2.931
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorOrozco, Len_HK
dc.contributor.authorVelázquez, Ren_HK
dc.contributor.authorZielenski, Jen_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorChávez, Men_HK
dc.contributor.authorLezana, JLen_HK
dc.contributor.authorSaldana, Yen_HK
dc.contributor.authorHernández, Een_HK
dc.contributor.authorCarnevale, Aen_HK
dc.date.accessioned2007-09-12T03:52:04Z-
dc.date.available2007-09-12T03:52:04Z-
dc.date.issued2000en_HK
dc.identifier.citationHuman Genetics, 2000, v. 106 n. 3, p. 360-365en_HK
dc.identifier.issn0340-6717en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44359-
dc.description.abstractWe have analyzed 97 CF unrelated Mexican families for mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Our initial screening for 12 selected CFTR mutations led to mutation detection in 56.66% of the tested chromosomes. In patients with at least one unknown mutation after preliminary screening, an extensive analysis of the CFTR gene by single stranded conformation polymorphism (SSCP) or by multiplex heteroduplex (mHET) analysis was performed. A total of 34 different mutations representing 74.58% of the CF chromosomes were identified, including five novel CFTR mutations: W1098C, P750L, 846delT, 4160insGGGG and 297-1G→A. The level of detection of the CF mutations in Mexico is still lower than that observed in other populations with a relatively low frequency of the ΔF508 mutation, mainly from southern Europe. The CFTR gene analysis described here clearly demonstrated the high heterogeneity of our CF population, which could be explained by the complex ethnic composition of the Mexican population, in particular by the strong impact of the genetic pool from southern European countries.en_HK
dc.languageengen_HK
dc.publisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htmen_HK
dc.relation.ispartofHuman Geneticsen_HK
dc.rightsThe original publication is available at www.springerlink.comen_HK
dc.subject.meshCystic fibrosis - epidemiology - geneticsen_HK
dc.subject.meshCystic fibrosis transmembrane conductance regulator - geneticsen_HK
dc.subject.meshPolymorphism, single-stranded conformationalen_HK
dc.subject.meshVariation (genetics)en_HK
dc.subject.meshMutationen_HK
dc.titleSpectrum of CFTR mutations in Mexican cystic fibrosis patients: identification of five level mutations (W1098C, 846deIT, P750L, 4160insGGGC and 297-1G→A)en_HK
dc.typeArticleen_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturelink_to_subscribed_fulltexten_HK
dc.identifier.doi10.1007/s004390051051en_HK
dc.identifier.pmid10798368en_HK
dc.identifier.scopuseid_2-s2.0-0343527249en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0343527249&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume106en_HK
dc.identifier.issue3en_HK
dc.identifier.spage360en_HK
dc.identifier.epage365en_HK
dc.identifier.isiWOS:000086661100016-
dc.publisher.placeGermanyen_HK
dc.identifier.scopusauthoridOrozco, L=7006847707en_HK
dc.identifier.scopusauthoridVelázquez, R=7003505300en_HK
dc.identifier.scopusauthoridZielenski, J=7003732699en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridChávez, M=7103119102en_HK
dc.identifier.scopusauthoridLezana, JL=6603265267en_HK
dc.identifier.scopusauthoridSaldana, Y=6506049430en_HK
dc.identifier.scopusauthoridHernández, E=55435170100en_HK
dc.identifier.scopusauthoridCarnevale, A=7005158960en_HK

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