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Titolo:
LINKAGE OF AUTOSOMAL RECESSIVE PRIMARY CONGENITAL GLAUCOMA TO THE GLC3A LOCUS IN ROMS (GYPSIES) FROM SLOVAKIA
Autore:
PLASILOVA M; FERAKOVA E; KADASI L; POLAKOVA H; GERINEC A; OTT J; FERAK V;
Indirizzi:
COMENIUS UNIV BRATISLAVA,DEPT MOL BIOL,MLYNSKA DOLINA B2 SK-84215 BRATISLAVA SLOVAKIA COMENIUS UNIV BRATISLAVA,DEPT MOL BIOL SK-84215 BRATISLAVA SLOVAKIA ROCKEFELLER UNIV NEW YORK NY 10021 UNIV HOSP,CLIN CHILD OPHTHALMOL BRATISLAVA SLOVAKIA SLOVAK ACAD SCI,INST MOL PHYSIOL & GENET BRATISLAVA 83334 SLOVAKIA
Titolo Testata:
Human heredity
fascicolo: 1, volume: 48, anno: 1998,
pagine: 30 - 33
SICI:
0001-5652(1998)48:1<30:LOARPC>2.0.ZU;2-T
Fonte:
ISI
Lingua:
ENG
Soggetto:
HUMAN GENOME; BUPHTHALMOS;
Keywords:
PRIMARY CONGENITAL GLAUCOMA; GYPSIES; GENETIC LINKAGE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
17
Recensione:
Indirizzi per estratti:
Citazione:
M. Plasilova et al., "LINKAGE OF AUTOSOMAL RECESSIVE PRIMARY CONGENITAL GLAUCOMA TO THE GLC3A LOCUS IN ROMS (GYPSIES) FROM SLOVAKIA", Human heredity, 48(1), 1998, pp. 30-33

Abstract

The autosomal recessive form of primary congenital glaucoma (gene symbol GLC3) has been recently mapped to two different loci, GLC3A (at 2p21), and GLC3B (at 1p36), respectively, on families of Turkish and Saudi Arabian provenance. This disorder is known to occur with an extremely high incidence in Roms (Gypsies) in Slovakia. We performed a standard linkage analysis on a sample of 7 Slovak Gypsy families comprising 18 affected members, and found significant linkage with four STR markers from the chromosomal region of 2p21 (D2S1788, D2S1346, D2S2328, andD2S1356), without heterogeneity. This finding demonstrates that in the Rom population of Slovakia, primary congenital glaucoma is due to the locus GLC3A, and consequently, to the mutation(s) in the cytochrome P4501B1 gene, which has been recently identified as the principal cause of the disease. Roms represent the third population, in which the disorder has been mapped to GLC3A.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 09/04/20 alle ore 11:42:26