Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12104/41851
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dc.contributor.authorIbarra, B.
dc.contributor.authorAizpuru, E.
dc.contributor.authorSnchez-Lpez, J.Y.
dc.contributor.authorMorales, K.R.
dc.contributor.authorPerea, F.J.
dc.contributor.authorRuiz-Reyes, G.
dc.date.accessioned2015-09-15T18:05:06Z-
dc.date.available2015-09-15T18:05:06Z-
dc.date.issued2009
dc.identifier.urihttp://www.scopus.com/inward/record.url?eid=2-s2.0-72049132940&partnerID=40&md5=13566c76e1a976843f496ba26d116d13
dc.identifier.urihttp://hdl.handle.net/20.500.12104/41851-
dc.description.abstractWe studied a fast-moving, abnormal hemoglobin (Hb) identified as FanninLubbock-I [?119(GH2)Gly?Asp] in a homozygous Mexican girl. To date, homozygosity for the Hb Fannin-Lubbock-I variant has not been reported. Her parents and five other relatives were heterozygotes. The 5? ?-globin haplotype analysis showed that the mutation was associated with haplotype 2 [- - ]for the ?, G?, A?, 5? and 3???-globin sites, and also segregated with the TGTTC haplotype, which was constructed with five polymorphic sites of the ?-globin gene [exon 1-nucleotide (nt) 6 (C>T) and IVS-II-16 (C>G), IVS-II-46 (T>C), IVS-II-74 (G>T), and IVS-II-81 (C>T). In 1994, a variant with an additional mutation at codon 111 [?111(G13)Val?Leu] was described in five Spanish families. This variant was termed Hb Fannin-Lubbock-II, and the question of the existence of Hb Fannin-Lubbock-I arose. However, based on our findings, we were able to confirm the existence of Hb Fannin-Lubbock-I and propose that this mutation has a different origin from the one identified in Spanish families. � Informa UK Ltd.
dc.relation.isreferencedbyScopus
dc.titleHB Fannin-Lubbock-I with a single GGC>GAC mutation at ?119(GH2)Gly?Asp in a homozygous mexican patient
dc.typeArticle
dc.identifier.doi10.3109/03630260903332866
dc.relation.ispartofjournalHemoglobin
dc.relation.ispartofvolume33
dc.relation.ispartofissue6
dc.relation.ispartofpage492
dc.relation.ispartofpage497
dc.subject.keywordAbnormal hemoglobin (Hbs); Hb Fannin-Lubbock; Hemoglobinopathies in Mexico; Unstable hemoglobins (Hbs)
dc.contributor.affiliationIbarra, B., Divisi�n de Gen�tica, Centro de Investigaci�n Biom�dica de Occidente, CMNO, IMSS, Sierra Mojada No. 800. Col. Independencia, Guadalajara, Jalisco, Mexico, Doctorado en Gen�tica Humana, Centro Universitario en Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Mexico; Aizpuru, E., Servicio de Gen�tica Hospital �ngeles Del Pedregal, DF M�xico, Mexico; Snchez-Lpez, J.Y., Divisi�n de Gen�tica, Centro de Investigaci�n Biom�dica de Occidente, CMNO, IMSS, Sierra Mojada No. 800. Col. Independencia, Guadalajara, Jalisco, Mexico, Doctorado en Gen�tica Humana, Centro Universitario en Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Mexico; Morales, K.R., Divisi�n de Gen�tica, Centro de Investigaci�n Biom�dica de Occidente, CMNO, IMSS, Sierra Mojada No. 800. Col. Independencia, Guadalajara, Jalisco, Mexico, Doctorado en Gen�tica Humana, Centro Universitario en Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Mexico; Perea, F.J., Divisi�n de Gen�tica, Centro de Investigaci�n Biom�dica de Occidente, CMNO, IMSS, Sierra Mojada No. 800. Col. Independencia, Guadalajara, Jalisco, Mexico, Doctorado en Gen�tica Humana, Centro Universitario en Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Mexico; Ruiz-Reyes, G., Laboratorios Cl�nicos de Puebla, Puebla, Mexico
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