Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12104/41851
Title: HB Fannin-Lubbock-I with a single GGC>GAC mutation at ?119(GH2)Gly?Asp in a homozygous mexican patient
Author: Ibarra, B.
Aizpuru, E.
Snchez-Lpez, J.Y.
Morales, K.R.
Perea, F.J.
Ruiz-Reyes, G.
Issue Date: 2009
Abstract: We 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.
URI: http://www.scopus.com/inward/record.url?eid=2-s2.0-72049132940&partnerID=40&md5=13566c76e1a976843f496ba26d116d13
http://hdl.handle.net/20.500.12104/41851
Appears in Collections:Producción científica UdeG

Files in This Item:
There are no files associated with this item.


Items in RIUdeG are protected by copyright, with all rights reserved, unless otherwise indicated.