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Titolo:
MUTATION ANALYSIS OF A SANDHOFF DISEASE PATIENT IN THE MARONITE COMMUNITY IN CYPRUS
Autore:
HARA Y; IOANNOU P; DROUSIOTOU A; STYLIANIDOU G; ANASTASIADOU V; SUZUKI K;
Indirizzi:
UNIV N CAROLINA,SCH MED,DEPT NEUROL,BRAIN & DEV RES CTR,CB 7250,311 BDRC CHAPEL HILL NC 27599 UNIV N CAROLINA,SCH MED,DEPT NEUROL,BRAIN & DEV RES CTR CHAPEL HILL NC 27599 UNIV N CAROLINA,SCH MED,DEPT PSYCHIAT,BRAIN & DEV RES CTR CHAPEL HILLNC 27599 CYPRUS INST NEUROL & GENET NICOSIA CYPRUS
Titolo Testata:
Human genetics
fascicolo: 2, volume: 94, anno: 1994,
pagine: 136 - 140
SICI:
0340-6717(1994)94:2<136:MAOASD>2.0.ZU;2-5
Fonte:
ISI
Lingua:
ENG
Soggetto:
TAY-SACHS DISEASE; HUMAN BETA-HEXOSAMINIDASE; ADULT GM2 GANGLIOSIDOSIS; ASHKENAZI JEWS; ALPHA-CHAIN; EXTENSIVE HOMOLOGY; GENE; DEFECT; DELETION; VARIANT;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
21
Recensione:
Indirizzi per estratti:
Citazione:
Y. Hara et al., "MUTATION ANALYSIS OF A SANDHOFF DISEASE PATIENT IN THE MARONITE COMMUNITY IN CYPRUS", Human genetics, 94(2), 1994, pp. 136-140

Abstract

Sandhoff disease occurs in the Christian Maronite community in Cyprus, a community that established over a thousand years ago. Nowadays, this community comprises less than 1% of the whole population, and has been culturally and socially isolated. Cultured fibroblasts from a patient from this inbred group showed a beta-hexosaminidase beta subunit mRNA of apparently the normal size but of reduced quantity. A mutational analysis of cDNA obtained by polymerase chain reaction amplificationof mRNA showed a deletion of A at nt 76 (counted from A of the initiation codon, ATG). The deletion results in a frame shift and a premature termination within 20 amino acids from the N-terminus of the normal mature enzyme protein. The patient was homozygous for the deletion. The 5'-end of the gene showed many discrepancies from the previously published sequence. We consider that these differences are probably polymorphisms of little functional significance, because the patient's fibroblasts generate decreased but stable mRNA and because some of these base changes were also found in the genes from control fibroblasts. An extensive evaluation of the prevalence of this mutant allele in this community is being initiated.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 01/12/20 alle ore 19:52:56