NDLI: The STR252 – IVS10nt546 – VNTR7 phenylalanine hydroxylase minihaplotype in five Mediterranean samples

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The STR252 – IVS10nt546 – VNTR7 phenylalanine hydroxylase minihaplotype in five Mediterranean samples

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Human Genetics : Volume 100, Issue 2, July 1997

Human Genetics : Volume 100, Issue 1, June 1997

Human Genetics : Volume 99

The STR252 – IVS10nt546 – VNTR7 phenylalanine hydroxylase minihaplotype in five Mediterranean samples

Content Provider	Springer Nature Link
Author	Calì, Francesco Dianzani, Irma Desviat, Lourdes R. Perez, Belen Ugarte, Magdalena Ozguc, Meral Seyrantepe, Volkan Shiloh, Yossi Giannattasio, Sergio Carducci, Carla Bosco, Paolo Leo, Giacomo De Piazza, Alberto Roma, V.
Copyright Year	1997
Abstract	IVS10nt546 (IVS10nt-11g→a) is the most common molecular defect of the phenylalanine hydroxylase gene causing phenylketonuria in Mediterranean populations. Previous studies have proposed various and alternative hypotheses concerning the geographical origin and pattern of diffusion of this mutation in this area. In this study, this issue was re-examined on a large sample (149) of “Mediterranean” IVS10nt546 mutant alleles analysed with multiallelic intragenic polymorphisms. The analysis of intragenic microsatellite (STR) and minisatellite (VNTR) polymorphisms shows allelic heterogeneity of the IVS10nt546 mutation. Eight STR and three VNTR alleles were found in association with the splicing defect. Of the ten detected STR–VNTR combinations (“minihaplotypes”), we identified a predominant allelic association (VNTR7 – STR252) embedded in a RFLP-haplotype 6 background, which seems to correspond to the ancestral gene originating in the Turkey–Israel area. Analysis of both absolute and relative gene frequencies of the STR252 – IVS10nt546 – VNTR7 minihaplotypes, shows statistically significant (P < 0.02) variations and may suggest gene flow from Turkey and/or Israel to Italy and Spain. The associated migratory events need not be unique in time (and people) but seem to suggest they may be traced back to the expansion of the Neolithic culture and people, thus allowing dating of the origin of this mutation to at least 5000–10 000 years ago. Alternative hypotheses are discussed to explain, in light of the available historical and pre-historical evidence, the pattern of diffusion of the IVS10nt546 mutation in the Mediterranean basin.
Starting Page	350
Ending Page	355
Page Count	6
File Format	PDF
ISSN	03406717
Journal	Human Genetics
Volume Number	100
Issue Number	3-4
e-ISSN	14321203
Language	English
Publisher	Springer-Verlag
Publisher Date	1997-08-04
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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