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Titolo:
Sandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community
Autore:
Drousiotou, A; Stylianidou, G; Anastasiadou, V; Christopoulos, G; Mavrikiou, E; Georgiou, T; Kalakoutis, G; Oladimeji, A; Hara, Y; Suzuki, K; Furihata, K; Ueno, I; Ioannou, PA; Fensom, AH;
Indirizzi:
Cyprus Inst Neurol & Genet, Nicosia, Cyprus Cyprus Inst Neurol & Genet Nicosia Cyprus urol & Genet, Nicosia, Cyprus Archbishop Makarios III Hosp, Nicosia, Cyprus Archbishop Makarios III Hosp Nicosia Cyprus s III Hosp, Nicosia, Cyprus Guys Hosp, Div Med & Mol Genet, London SE1 9RT, England Guys Hosp LondonEngland SE1 9RT ed & Mol Genet, London SE1 9RT, England Univ N Carolina, Ctr Neurosci, Dept Psychiat, Chapel Hill, NC 27599 USA Univ N Carolina Chapel Hill NC USA 27599 chiat, Chapel Hill, NC 27599 USA Univ N Carolina, Ctr Neurosci, Dept Neurol, Chapel Hill, NC 27599 USA UnivN Carolina Chapel Hill NC USA 27599 eurol, Chapel Hill, NC 27599 USA Shinshu Univ, Sch Med, Div Med Genet, Matsumoto, Nagano 390, Japan ShinshuUniv Matsumoto Nagano Japan 390 net, Matsumoto, Nagano 390, Japan
Titolo Testata:
HUMAN GENETICS
fascicolo: 1, volume: 107, anno: 2000,
pagine: 12 - 17
SICI:
0340-6717(200007)107:1<12:SDICPS>2.0.ZU;2-O
Fonte:
ISI
Lingua:
ENG
Soggetto:
HUMAN BETA-HEXOSAMINIDASE; TAY-SACHS DISEASE; SPLICE-SITE MUTATION; HEXB GENE; HETEROZYGOTE DETECTION; MOLECULAR-BASIS; SUBUNIT GENE; EXTENSIVE HOMOLOGY; MESSENGER-RNA; ADULT FORM;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
37
Recensione:
Indirizzi per estratti:
Indirizzo: Drousiotou, A Cyprus Inst Neurol & Genet, POB 3462, Nicosia, Cyprus CyprusInst Neurol & Genet POB 3462 Nicosia Cyprus Cyprus
Citazione:
A. Drousiotou et al., "Sandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community", HUM GENET, 107(1), 2000, pp. 12-17

Abstract

In the last 15 years, four patients With the infantile form of Sandhoff disease were diagnosed in four different families in Cyprus (population 703,000, birth rate 1.7%). Three of these cases came from the Christian Maronitecommunity (less than 1% of the population) and one from the Creek community (84% of the population). This relatively large number of patients prompted us to initiate an epidemiological study in order to establish the frequency of the mutant allele in Cyprus. Carrier detection was initially based onthe measurement of beta-hexosaminidase A and B in both leucocytes and serum. Using the enzyme test, 35 carriers were identified among 234 random Maronite samples and 15 among 28 h Maronites with a family history of Sandhoff disease, but only one carrier was found out of 115 random samples from the Greek community. in parallel to the biochemical screening. DNA studies wereundertaken in one of I-he three Maronite patients and in a Greek: carrier related to the Greek patient. These studies resulted in the identification of two novel mutations, a deletion of A at nt76 and a G to C transversion at position 5 of the 5'-splice site of intron 8, which have been published. We subsequently screened the carriers detected in the biochemical study forthese two mutations using PCR-based tests. Of 50 Maronite carriers examined, 42 were found to have the nt76 deletion. Eight Maronite samples, designated carriers from the biochemical results, were negative for both mutations. It is possible that these individuals were incorrectly classified as carriers since their enzyme values are equivocal, although the presence of another mutation has not been excluded. Two Greek Cypriot carriers and two obligate Lebanese carriers were negative for both mutations. We conclude that there is a high frequency of Sandhoff disease carriers in the Maronite community of Cyprus, approximately I in 7, and that a single mutation predominates in this population.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 01/12/20 alle ore 13:20:45