α Hereditary elliptocytosis in Southern Italy: Evidence for an African origin.
In: Human Genetics, Jg. 89 (1992-07-01), Heft 5, S. 553-556
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Zugriff:
α Hereditary elliptocytosis (HE) is due to the duplication of TTG codon 154 (leucine) of α-spectrin and is associated with a constant haplotype. It was encountered exclusively in African and American Blacks, and in North Africans. We assumed that it diffused from the Benin-Togo area to Northern Africa. We now report two South Italian families with α HE. The phenotype fully conformed to previous descriptions. The mode of transmission was dominant; however, the manifestations were more pronounced when the common, low expression level α allele occurred in trans to the α allele, also conforming to previous records. The mutation underlying α HE turned out to be, again, the duplication of TTG codon 154 and the associated haplotype was the same as that encountered previously (+-+; XbaI, PvuII, MspI). Thus, the α allele found in Italy must have been introduced from North Africa across the Sicilian channel and would ultimately have originated from the Benin-Togo area. It would witness the same migratory stream as that followed by the Benin type haemoglobin S allele, which is also present in Southern Italy. [ABSTRACT FROM AUTHOR]
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Titel: |
α Hereditary elliptocytosis in Southern Italy: Evidence for an African origin.
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Autor/in / Beteiligte Person: | Miraglia del Giudice, E. ; Ducluze, M. ; Alloisio, N. ; Wilmotte, R. ; Delaunay, J. ; Perrotta, S. ; Cutillo, S. ; Iolascon, A. |
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Zeitschrift: | Human Genetics, Jg. 89 (1992-07-01), Heft 5, S. 553-556 |
Veröffentlichung: | 1992 |
Medientyp: | academicJournal |
ISSN: | 0340-6717 (print) |
DOI: | 10.1007/BF00219183 |
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