[Autosomal fragile sites].
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.
D000293:Adolescent; D000328:Adult; D001973:Bromodeoxyuridine / Q000494:pharmacology; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics; D002871:Chromosome Banding; D025063:Chromosome Disorders; D043283:Chromosome Fragile Sites; D002873:Chromosome Fragility; D002875:Chromosomes / Q000187:drug effects; D002906:Chromosomes, Human, 6-12 and X; D004214:Distamycins / Q000494:pharmacology; D005260:Female; D005492:Folic Acid / Q000494:pharmacology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D013936:Thymidine / Q000494:pharmacology
D004214:Distamycins; C030000:stallimycin; D005492:Folic Acid; D001973:Bromodeoxyuridine; D013936:Thymidine
Les sites fragiles autosomiques.