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Titolo:
Identification of novel mutations in Arabs with cystic fibrosis and their impact on the cystic fibrosis transmembrane regulator mutation detection rate in Arab populations
Autore:
Kambouris, M; Banjar, H; Moggari, I; Nazer, H; Al-Hamed, M; Meyer, BF;
Indirizzi:
King Faisal Specialist Hosp & Res Ctr, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr Riyadh Saudi Arabia 11211 i Arabia Yale Univ, Sch Med, New Haven, CT 06510 USA Yale Univ New Haven CT USA 06510 e Univ, Sch Med, New Haven, CT 06510 USA
Titolo Testata:
EUROPEAN JOURNAL OF PEDIATRICS
fascicolo: 5, volume: 159, anno: 2000,
pagine: 303 - 309
SICI:
0340-6199(200005)159:5<303:IONMIA>2.0.ZU;2-T
Fonte:
ISI
Lingua:
ENG
Soggetto:
NONSENSE MUTATIONS; EPITHELIAL-CELLS; CFTR MUTATIONS; MULTIPLEX PCR; SUBSTITUTIONS; MISMATCHES; COMMON; GENE;
Keywords:
cystic fibrosis transmembrane regulator; Arab population; cystic fibrosis; mutations;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
28
Recensione:
Indirizzi per estratti:
Indirizzo: Kambouris, M King Faisal Specialist Hosp & Res Ctr, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr Riyadh Saudi Arabia 11211
Citazione:
M. Kambouris et al., "Identification of novel mutations in Arabs with cystic fibrosis and their impact on the cystic fibrosis transmembrane regulator mutation detection rate in Arab populations", EUR J PED, 159(5), 2000, pp. 303-309

Abstract

The cystic fibrosis transmembrane regulator (CFTR) gene in Arab patients with cystic fibrosis (CF) (sweat chloride > 60 mmol/l) from 61 unrelated families was screened for mutations in exons 3, 4, 5, 7, 10, 11, 16 and 19 andfor mutations W1282X, N1303K and 3849 +/- 10kbC --> T. Eight novel mutations were identified. These are: in exon 4: a) 425del42 tan in-frame 42 bp deletion that removes 14 amino acids and causes Gln(98) --> His at the point of deletion), b) 475G --> T (Glu(115) --> Stop) and c) 548A --> T (His(139)--> Leu), in intron 5, 711 + 1G --> A (splice site mutation);in exon 10, 1548delG (deletion of a "G" nucleotide causing a frameshift mutation that alters the amino acid sequence at residue 473 and results in translation termination at residue 526); in exon 11, a) 1729T --> C (Ph533E --> Leu) and b)1811 + 2 (splice site mutation) and finally in exon 19, 3361A --> T (LYs(1177) --> Stop). All mutations were detected by heteroduplex analysis and identified by sequencing. Of more than 850 known CFTR mutations, only 9 were encountered. The comparative frequencies of the most common mutations are: 1548delG> I123V = Delta F508 = 3120 + 1G --> A > H139L. Screening for thesefive mutations identifies 60% of the CF alleles in Arab populations. The novel mutation 1548delG is the most frequent (17%) among Arabs. Conclusion Novel Arab-specific mutations were identified in the CFTR gene underlying cystic fibrosis. As a result of this study, the CFTR mutation detection rate among Arabs with cystic fibrosis is now comparable to that of other populations.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 21/09/20 alle ore 09:00:25