NDLI: Hb Lepore-Baltimore (δ68Leu-β84Thr) and Hb Lepore-Washington-Boston (δ87Gln-βIVS-II-8) in Central Portugal and Spanish Alta Extremadura

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Human Genetics : Volume 99, Issue 4, March 1997

Human Genetics : Volume 99, Issue 3, February 1997

Human Genetics : Volume 99, Issue 2, January 1997

Hb Lepore-Baltimore (δ68Leu-β84Thr) and Hb Lepore-Washington-Boston (δ87Gln-βIVS-II-8) in Central Portugal and Spanish Alta Extremadura

Content Provider	Springer Nature Link
Author	Ribeiro, M. L. Cunha, E. Gonçalves, P. Núñez, G. Martin Galan, M. A. Fernandez Tamagnini, G. P. Smetanina, N. S. Gu, L. H. Huisman, T. H. J.
Copyright Year	1997
Abstract	Hb Lepore is one of the most common abnormal haemoglobins in Caucasians in Central Portugal and in the Spanish Alta Extremadura (0.28% in a survey of school children). A group of 19 Portuguese and 14 Spanish Hb Lepore carriers (all unrelated) was characterised at the molecular level by the polymerase chain reaction, sequencing and restriction enzyme analysis. The Portuguese and one Spanish carrier were heterozygous for Hb Lepore-Baltimore, whereas all other Spanish subjects were Hb Lepore-Washington-Boston carriers. Sequencing of the Hb Lepore-Baltimore gene further established the crossover at δ68-β84, a region two codons (CDs) shorter than that previously described and easily confirmed by digestion with MaeI and BanI. Data from haplotype analysis suggest that this crossover occurred as an independent event on the lberian Peninsula. The haematological data were similar in both groups except for the levels of Hb F and the Gγ chain, which were significantly higher in the Hb Lepore-Baltimore heterozygotes. Quantification of the globin chains and the mRNA transcripts showed that the δβ gene is transcribed at a higher level than the δ gene with levels of translation giving rise to 10%–15% of Hb Lepore. The different levels of Hb F observed in the two groups are the results of the higher transcription rate of the γ genes in Hb Lepore-Baltimore heterozygotes and an apparently less efficient translation of Gγ genes in Hb Lepore-Washington-Boston heterozygotes.
Starting Page	669
Ending Page	673
Page Count	5
File Format	PDF
ISSN	03406717
Journal	Human Genetics
Volume Number	99
Issue Number	5
e-ISSN	14321203
Language	English
Publisher	Springer-Verlag
Publisher Date	1997-04-18
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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Hb Lepore-Baltimore (δ68Leu-β84Thr) and Hb Lepore-Washington-Boston (δ87Gln-βIVS-II-8) in Central Portugal and Spanish Alta Extremadura

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