title: Segregation analysis of rare autosomal folate sensitive fragile sites.
abstract: We have studied 12 families with rare autosomal folate sensitive fragile sites (RAFSFS). Of these, 9 were informative for segregation analysis of fragile sites in order to assess differences in parental transmission. We identified 20 families with RAFSFS from the literature from 1985 to 1989; thirteen of these were informative for segregation analysis. Segregation analysis confirmed that paternal fragile site transmission rates deviated significantly from the expected 50% for a Mendelian co-dominant trait. Sex ratio comparisons showed a significant excess of transmitting females and a significant excess of males among fragile site non-carriers from the literature families. Comparison of the fragile site carriers with non-carriers in the combined data showed a non-significant excess of non-carriers. We confirmed a deficiency of offspring expressing fragile sites when transmission was through fathers, suggesting gametic selection or the phenomenon of parental genomic imprinting.
authors: Department of Human Genetics, University of Manitoba, Winnipeg, Canada.
authors: P
authors: P
authors: Samadder
authors: J A
authors: JA
authors: Evans
authors: A E
authors: AE
authors: Chudley
mesh_terms: D001321:Autistic Disorder / Q000235:genetics; D043283:Chromosome Fragile Sites; D002873:Chromosome Fragility; D002877:Chromosomes, Human / Q000187:drug effects*; D005260:Female; D005492:Folic Acid / Q000494:pharmacology*; D005799:Genes, Dominant; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D010375:Pedigree; D012744:Sex Ratio
chemical_list: D005492:Folic Acid