Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
MUTATION ANALYSIS OF PATIENTS WITH HERMANSKY-PUDLAK-SYNDROME - A FRAMESHIFT HOT-SPOT IN THE HPS GENE AND APPARENT LOCUS HETEROGENEITY
Autore:
OH J; HO LL; ALAMELLO S; AMATO D; ARMSTRONG L; BELLUCCI S; CARAKUSHANSKY G; ELLIS JP; FONG CT; GREEN JS; HEON E; LEGIUS E; LEVIN AV; NIEUWENHUIS HK; PINCKERS A; TAMURA N; WHITEFORD ML; YAMASAKI H; SPRITZ RA;
Indirizzi:
UNIV WISCONSIN,GENET LAB,DEPT MED GENET,445 HENRY MALL MADISON WI 53706 UNIV WISCONSIN,GENET LAB,DEPT MED GENET MADISON WI 53706 UNIV WISCONSIN,GENET LAB,DEPT PEDIAT MADISON WI 53706 UNIV HELSINKI,CENT HOSP,DEPT CLIN GENET HELSINKI FINLAND MT SINAI HOSP,DEPT HEMATOL TORONTO ON CANADA UNIV TORONTO,HOSP SICK CHILDREN,DEPT OPHTHALMOL TORONTO ON M5G 1X8 CANADA NYU,MED CTR,DEPT MED NEW YORK NY 10016 HOP LARIBOISIERE,HEMATOL LAB F-75475 PARIS FRANCE FED UNIV RIO DE JANEIRO,SCH MED,DEPT PEDIAT RIO JANEIRO BRAZIL PRINCESS MARGARET HOSP CHILDREN,DEPT DERMATOL SWINDON WILTS ENGLAND UNIV ROCHESTER,MED CTR,DEPT PEDIAT ROCHESTER NY 14642 MEM UNIV NEWFOUNDLAND,NEWFOUNDLAND & LABRADOR MED GENET PROGRAM ST JOHNS NF CANADA UNIV HOSP GASTHUISBERG,CTR HUMAN GENET B-3000 LOUVAIN BELGIUM UNIV UTRECHT HOSP,DEPT HEMATOL UTRECHT NETHERLANDS UNIV NIJMEGEN,DEPT OPHTHALMOL NIJMEGEN NETHERLANDS JUNTENDO UNIV,SCH MED,DEPT RESP MED TOKYO 113 JAPAN DUNCAN GUTHRIE INST MED GENET GLASGOW G3 8SJ LANARK SCOTLAND KUMAMOTO UNIV,SCH MED,DEPT INTERNAL MED 1 KUMAMOTO 860 JAPAN
Titolo Testata:
American journal of human genetics
fascicolo: 3, volume: 62, anno: 1998,
pagine: 593 - 598
SICI:
0002-9297(1998)62:3<593:MAOPWH>2.0.ZU;2-D
Fonte:
ISI
Lingua:
ENG
Soggetto:
POPULATION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
22
Recensione:
Indirizzi per estratti:
Citazione:
J. Oh et al., "MUTATION ANALYSIS OF PATIENTS WITH HERMANSKY-PUDLAK-SYNDROME - A FRAMESHIFT HOT-SPOT IN THE HPS GENE AND APPARENT LOCUS HETEROGENEITY", American journal of human genetics, 62(3), 1998, pp. 593-598

Abstract

Hermansky-Pudlak syndrome (HPS) is a rare, autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles-melanosomes, platelet-dense granules, and lysosomes. As reported elsewhere, we mapped the human HPS gene to chromosome segment 10q23, positionally cloned the gene, and identified three pathologic mutations of the gene, in patients from Puerto Rico, Japan, and Europe. Here, we describe mutation analysis of 44 unrelated Puerto Rican and 24 unrelated non-Puerto Rican HPS patients. A 16-bp frameshift duplication, the result of anapparent founder effect, is nearly ubiquitous among Puerto Rican patients. A frameshift at codon 322 may be the most frequent HPS mutation in Europeans. We also describe six novel HPS mutations: a 5' splice-junction mutation of IVS5, three frameshifts, a nonsense mutation, and aone-codon in-frame deletion. These mutations define an apparent frameshift hot spot at codons 321-322. Overall, however, we detected mutations in the HPS gene in only about half of non-Puerto Rican patients, and we present evidence that suggests locus heterogeneity for HPS.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/09/20 alle ore 00:14:40