title: Recombination patterns around the breakpoints of a balanced 1;11 autosomal translocation associated with major mental illness.
abstract: The frequency and extent of pairing failure around human translocations are unknown. We have examined the pattern of recombination around the breakpoints of a balanced autosomal translocation t(1;11) (q43;q21) associated with major mental illness. DNA was available from 17 carriers and 10 non-translocation carriers with meioses involving four generations. The derivative 1 and 11 chromosomes were also isolated in somatic cell hybrids and used to confirm phase. We have genotyped pedigree members using 20 polymorphic markers within 10 cM on either side of both chromosome 1 and 11 breakpoints. We find no significant reduction of recombination in the vicinity of either breakpoint. However we estimate that there are insufficient meioses even in this large family to make a meaningful interpretation and suggest that sperm typing alone can answer these interesting questions.
authors.affiliation: MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK.
authors.forename: L
authors.initials: L
authors.lastname: He
authors.forename: A
authors.initials: A
authors.lastname: Carothers
authors.forename: D H
authors.initials: DH
authors.lastname: Blackwood
authors.forename: P
authors.initials: P
authors.lastname: Teague
authors.forename: A W
authors.initials: AW
authors.lastname: Maclean
authors.forename: J
authors.initials: J
authors.lastname: Brown
authors.forename: A F
authors.initials: AF
authors.lastname: Wright
authors.forename: W J
authors.initials: WJ
authors.lastname: Muir
authors.forename: D J
authors.initials: DJ
authors.lastname: Porteous
authors.forename: D M
authors.initials: DM
authors.lastname: St Clair
mesh_terms: D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D002880:Chromosomes, Human, Pair 11; D005260:Female; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D005819:Genetic Markers; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D006822:Hybrid Cells; D008126:Lod Score; D008297:Male; D008540:Meiosis; D010375:Pedigree; D011110:Polymorphism, Genetic; D011336:Probability; D011618:Psychotic Disorders / Q000235:genetics*; D011995:Recombination, Genetic; D014178:Translocation, Genetic
chemical_list: D005819:Genetic Markers