Les sites fragiles autosomiques. [[Autosomal fragile sites].
Détails
ID Serval
serval:BIB_B5F40C38082F
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Les sites fragiles autosomiques. [[Autosomal fragile sites].
Périodique
Journal de Génétique Humaine
ISSN
0021-7743
Statut éditorial
Publié
Date de publication
1984
Volume
32
Numéro
3
Pages
155-166
Langue
français
Résumé
It is possible to distribute the 17 autosomic fragile sites presently known in three categories according to their sensitivity: BrdU-sensitive sites (10q25, 16q22, 17p12), distamycin A-sensitive sites (16q22, 17p12) and folate- and thymidilate-sensitive sites (2q11-q14, 3p14, 6p23, 7p11, 8q22, 9p21, 9q32, 10q23, 11q13, 11q23, 12q13, 16p12, 16q23, 17p12, 20p11). Four fundamental problems are discussed, first the relation between the presence of a fragile site and the phenotype, secondly the incidence of autosomic sites, third the origin of fragility (particularity of DNA structure, defect of the DNA/proteins binding and abnormal arrangement of chromatin, abnormality of the metaphasic scaffold) and fourth the localization of fragile sites.
Mots-clé
Adolescent, Adult, Bromodeoxyuridine, Child, Child, Preschool, Chromosome Aberrations, Chromosome Banding, Chromosome Disorders, Chromosome Fragile Sites, Chromosome Fragility, Chromosomes, Chromosomes, Human, 6-12 and X, Distamycins, Female, Folic Acid, Humans, Infant, Infant, Newborn, Male, Phenotype, Thymidine
Pubmed
Web of science
Création de la notice
22/05/2009 8:42
Dernière modification de la notice
20/08/2019 15:24