Les sites fragiles autosomiques. [[Autosomal fragile sites].
Details
Serval ID
serval:BIB_B5F40C38082F
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Les sites fragiles autosomiques. [[Autosomal fragile sites].
Journal
Journal de Génétique Humaine
ISSN
0021-7743
Publication state
Published
Issued date
1984
Volume
32
Number
3
Pages
155-166
Language
french
Abstract
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.
Keywords
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
Create date
22/05/2009 8:42
Last modification date
20/08/2019 15:24