PMID- 16330381
OWN - NLM
STAT- MEDLINE
DCOM- 20060524
LR  - 20220331
IS  - 0003-3898 (Print)
IS  - 0003-3898 (Linking)
VI  - 63
IP  - 6
DP  - 2005 Nov-Dec
TI  - [Molecular epidemiology of cystic fibrosis in Tunisia].
PG  - 627-30
AB  - Cystic fibrosis is the most frequent autosomal recessive genetic disease in North 
      European population. This pathology seems to not be rare in Tunisia. On another 
      hand, development of molecular biology techniques has largely contributed to 
      implement the study of the different mutations in the CFTR gene where over 1,300 
      mutations were reported. Herein, we describe the strategy used to detect 
      molecular defects responsible of cystic fibrosis on 390 children (383 families) 
      in Tunisian population. Several techniques were performed for genotype diagnosis: 
      DNA extraction was from peripheral blood. Polymerase chain reaction (PCR) and 
      polyacylamide gel electrophoresis, and reverse dot blot procedures were used to 
      detect known point mutations. Denaturant gradient gel electrophoresis (DGGE) were 
      used in a next step searching for the unknown point mutations that are later 
      identified by automated sequencing on ABIprism 310. This strategy allowed us to 
      detect 17 different mutations located on the different exons of the CFTR gene. 
      The most frequent was the F508del (50.74%) followed by three other mutations 
      (G542X, W1282X and N1303K) known to be common in the Mediterranean area. For 
      mutations (T665S, 2766 del8, F1166C, L1043R) were exclusively found, up to now, 
      in the Tunisian population. Our results permitted to establish cystic fibrosis 
      mutations and their distribution in Tunisia and to implement an appropriate 
      prevention program of these diseases through the genetic council and prenatal 
      diagnosis.
FAU - Messaoud, T
AU  - Messaoud T
AD  - Laboratoire de biochimie clinique, Hopital d'Enfants de Tunis, Tunisie.
FAU - Bel Haj Fredj, S
AU  - Bel Haj Fredj S
FAU - Bibi, A
AU  - Bibi A
FAU - Elion, J
AU  - Elion J
FAU - Ferec, C
AU  - Ferec C
FAU - Fattoum, S
AU  - Fattoum S
LA  - fre
PT  - English Abstract
PT  - Journal Article
TT  - Epidemiologie moleculaire de la mucoviscidose en Tunisie.
PL  - France
TA  - Ann Biol Clin (Paris)
JT  - Annales de biologie clinique
JID - 2984690R
SB  - IM
MH  - Child
MH  - Child, Preschool
MH  - Cystic Fibrosis/*epidemiology/*genetics
MH  - Humans
MH  - Infant
MH  - Molecular Epidemiology
MH  - *Mutation
MH  - Tunisia/epidemiology
EDAT- 2005/12/07 09:00
MHDA- 2006/05/25 09:00
CRDT- 2005/12/07 09:00
PHST- 2005/03/04 00:00 [received]
PHST- 2005/09/09 00:00 [accepted]
PHST- 2005/12/07 09:00 [pubmed]
PHST- 2006/05/25 09:00 [medline]
PHST- 2005/12/07 09:00 [entrez]
PST - ppublish
SO  - Ann Biol Clin (Paris). 2005 Nov-Dec;63(6):627-30.