Contribution of common CFTR variants (M470V, T854, and Q1463) to cystic fibrosis in Tunisia: haplotype analysis (notice n° 275419)
[ vue normale ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 03953cam a2200361 4500500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250117193338.0 |
| 041 ## - LANGUAGE CODE | |
| Language code of text/sound track or separate title | fre |
| 042 ## - AUTHENTICATION CODE | |
| Authentication code | dc |
| 100 10 - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Nefzi, Malek |
| Relator term | author |
| 245 00 - TITLE STATEMENT | |
| Title | Contribution of common CFTR variants (M470V, T854, and Q1463) to cystic fibrosis in Tunisia: haplotype analysis |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Date of publication, distribution, etc. | 2021.<br/> |
| 500 ## - GENERAL NOTE | |
| General note | 5 |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | RésuméObjectif : La mucoviscidose est causée par des mutations du gène codant pour la protéine Cystic Fibrosis Transmembrane Regulator (CFTR), un canal chlore situé dans la membrane de la cellule épithéliale. Plus de 2000 mutations du gène CFTR ont été identifiées contribuant à la diversité phénotypique de cette maladie. Dans ce présent travail, nous avons mené une étude cas-témoins afin de déterminer les fréquences de polymorphismes p.Met470Val (M470V), p.Thr854= (T854) et p.Gln1463= (Q1463) et d’établir leurs contributions chez nos malades. Méthodes : Le génotypage des variants de M470V (exon 10), T854 (exon 14a) et Q1463 (exon 24) a été réalisé par la technique PCR-RFLP (Polymorphism Restriction Fragment Length Polymorphism) chez 48 malades et 64 sujets sains. Résultats et conclusion. Une différence statistique a été observée dans la distribution génotypique de deux marqueurs, M470V et T854, entre le groupe mucoviscidosique et le groupe témoin. Cependant, le polymorphisme Q1463 n’a pas été identifié chez les deux groupes étudiés. Trois haplotypes ont été trouvés chez nos groupes. Une association exclusive entre l’haplotype ancestral 1-1-2 et la mutation p.Phe508del (F508del) a été montrée. Ce travail s’intéressant à l’analyse des polymorphismes et des haplotypes M470V, T854 et Q1463 associés à la mutation la plus commune, F508del, constitue la première étude effectuée dans notre population tunisienne et dans le monde. |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | Background & objectives.Cystic fibrosis (CF) is caused by mutations in the gene encoding the CF transmembrane regulator (CFTR) protein, a chloride channel located in the epithelial cell membrane. Over than 2,000 CFTR mutations have been identified, which contribute to the variety of clinical phenotypes of CF. We performed acase-control study to determine p.Met470Val (M470V), p.Thr854= (T854) and p.Gln1463= (Q1463) polymorphisms frequencies in CF patients and healthy controls and to elaborate haplotype based on these SNPs. Methods:The genotyping of M470V (exon 10), T854 (exon 14a), and Q1463 (exon 24) variants were identified using polymorphism restriction fragment length polymorphism (RFLP). Results & conclusion: Statistical difference was noted in the genotype distribution of two markers, M470V and T854, between CF and control groups. However, the Q1463 polymorphism is not identified in two studied groups. Three haplotypes were found in CF patients and controls. An exclusive association between the ancestral haplotype 1-1-2 and p.Phe508del (F508del) mutation was shown. In Tunisia, this is the first work to be interested in the analysis of M470V, T854 and Q1463 polymorphisms and haplotypes associated with the most common mutation, F508del, in the Tunisian population and worldwide. |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | haplotype |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | gène CFTR |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | mutation F508del |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | population tunisienne |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | polymorphismes |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | haplotype |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | CFTR gene |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | F508del mutation |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | polymorphisms |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | Tunisian population |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hadj Fredj, Sondess |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dabboubi, Rym |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hamouda, Samia |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tebib, Neji |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Boussetta, Khedija |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Messaoud, Taieb |
| Relator term | author |
| 786 0# - DATA SOURCE ENTRY | |
| Note | Annales de Biologie Clinique | 79 | 1 | 2021-01-01 | p. 63-68 | 0003-3898 |
| 856 41 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://shs.cairn.info/revue-annales-de-biologie-clinique-2021-1-page-63?lang=en&redirect-ssocas=7080">https://shs.cairn.info/revue-annales-de-biologie-clinique-2021-1-page-63?lang=en&redirect-ssocas=7080</a> |
Pas d'exemplaire disponible.
Réseaux sociaux