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Titolo:
DIRECT SEQUENCING OF THE COMPLETE CFTR GENE - THE MOLECULAR CHARACTERIZATION OF 99.5-PERCENT OF CF CHROMOSOMES IN WALES
Autore:
CHEADLE JP; GOODCHILD MC; MEREDITH AL;
Indirizzi:
UNIV WALES COLL MED,INST MED GENET,HEATH PK CARDIFF CF4 4XN S GLAM WALES UNIV WALES COLL MED,DEPT CHILD HLTH,CF UNIT CARDIFF CF4 4XN S GLAM WALES
Titolo Testata:
Human molecular genetics
fascicolo: 10, volume: 2, anno: 1993,
pagine: 1551 - 1556
SICI:
0964-6906(1993)2:10<1551:DSOTCC>2.0.ZU;2-S
Fonte:
ISI
Lingua:
ENG
Soggetto:
CYSTIC-FIBROSIS MUTATIONS; IDENTIFICATION; POPULATION; COMMON; REGIONS; PROTEIN; DNA;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
26
Recensione:
Indirizzi per estratti:
Citazione:
J.P. Cheadle et al., "DIRECT SEQUENCING OF THE COMPLETE CFTR GENE - THE MOLECULAR CHARACTERIZATION OF 99.5-PERCENT OF CF CHROMOSOMES IN WALES", Human molecular genetics, 2(10), 1993, pp. 1551-1556

Abstract

We have performed an extensive mutation analysis on 184 CF families in Wales. In our previous study, mutations on 329/369 CF chromosomes were identified after screening for delta F508 and sixteen other mutations. To identify the mutations on the remaining 40 uncharacterised CF chromosomes, we have carried out direct DNA sequencing over the complete coding region, intron splice sites, and part of the promoter region of the CFTR gene. During this study we have designed a set of internalsequencing primers which allow clear sequencing through the aforementioned regions. Sequence analysis revealed 1 5 further mutations (4 of which are novel), and 10 previously described polymorphisms. In total,we have identified 29 mutations, the distribution of which provides further insight into the functional domains of the CFTR protein. We have characterised 99.5% of the CF chromosomes (365/367, one sample degraded). In order to ascertain accurate frequency data for the Welsh population, CF families with at least 3 'Welsh' grandparents were strictlyregarded as 'Welsh'. Of these 91 families, delta F508 accounts for 71.6%, 621 + 1 G --> T 6.6% and 1898 + 1 G --> A 5.5%. The implications for CF population screening in Wales are discussed.

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Documento generato il 20/01/21 alle ore 16:00:26