Les sites fragiles autosomiques. [[Autosomal fragile sites].
Data(s) |
1984
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Resumo |
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. |
Identificador |
http://serval.unil.ch/?id=serval:BIB_B5F40C38082F isbn:0021-7743 pmid:6481340 isiid:A1984TD61000001 |
Idioma(s) |
fr |
Fonte |
Journal de Génétique Humaine, vol. 32, no. 3, pp. 155-166 |
Palavras-Chave | #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 |
Tipo |
info:eu-repo/semantics/article article |