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Titolo:
COII TRANSFER RNA(LYS) INTERGENIC 9-BP DELETION AND OTHER MTDNA MARKERS CLEARLY REVEAL THAT THE THARUS (SOUTHERN NEPAL) HAVE ORIENTAL AFFINITIES
Autore:
PASSARINO G; SEMINO O; MODIANO G; SANTACHIARABENERECETTI AS;
Indirizzi:
UNIV PAVIA,DIPARTIMENTO GENET & MICROBIOL,VIA ABBIATEGRASSO 207 I-27100 PAVIA ITALY UNIV PAVIA,DIPARTIMENTO GENET & MICROBIOL,VIA ABBIATEGRASSO 207 I-27100 PAVIA ITALY UNIV CALABRIA,CNR,ISMEC COSENZA ITALY UNIV CALABRIA,DIPARTIMENTO BIOL CELLULARE COSENZA ITALY UNIV TOR VEGATA ROME,DIPARTIMENT BIOL ROME ITALY
Titolo Testata:
American journal of human genetics
fascicolo: 3, volume: 53, anno: 1993,
pagine: 609 - 618
SICI:
0002-9297(1993)53:3<609:CTRI9D>2.0.ZU;2-J
Fonte:
ISI
Lingua:
ENG
Soggetto:
HUMAN MITOCHONDRIAL-DNA; MALARIA MORBIDITY; LENGTH MUTATIONS; POPULATIONS; MIGRATIONS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
21
Recensione:
Indirizzi per estratti:
Citazione:
G. Passarino et al., "COII TRANSFER RNA(LYS) INTERGENIC 9-BP DELETION AND OTHER MTDNA MARKERS CLEARLY REVEAL THAT THE THARUS (SOUTHERN NEPAL) HAVE ORIENTAL AFFINITIES", American journal of human genetics, 53(3), 1993, pp. 609-618

Abstract

We searched for the East Asian mtDNA 9-bp deletion in the intergenic COII/tRNA(Lys) region in a sample of 107 Tharus (50 from central Teraiand 57 from eastern Terai), a population whose anthropological originhas yet to be completely clarified. The deletion, detected by electrophoresis of the PCR-amplified nt 7392-8628 mtDNA fragment after digestion with HaeIII, was found in about 8% of both Tharu groups but was found in none of the 76 Hindus who were examined as a non-Oriental neighboring control population. A complete triplication of the 9-bp unit, the second case so far reported, was also observed in one eastern Tharu. All the mtDNAs with the deletion, and that with the triplication, were further characterized (by PCR amplification of the relevant mtDNA fragments and their digestion with the appropriate enzymes) to locate them in the Ballinger et al. phylogeny of East Asian mtDNA haplotypes. The deletion was found to be associated with four different haplotypes, two of which are reported for the first time. One of the deletions and especially the triplication could be best explained by the assumption of novel length-change events. Ballinger's classification of East Asian mtDNA haplotypes is mainly based on the phenotypes for the DdeI site at nt 10394 and the AluI site at nt 10397. Analysis of the entire Tharu sample revealed that more than 70% of the Tharus have both sites, the association of which has been suggested as an ancient East Asianpeculiarity. These results conclusively indicate that the Tharus havea predominantly maternal Oriental ancestry. Moreover, they show at least one and perhaps two further distinct length mutations, and this suggests that the examined region is a hot spot of rearrangements.

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Documento generato il 24/11/20 alle ore 22:21:15