title: Identification of a yeast artificial chromosome clone spanning a translocation breakpoint at 7q32.1 in a Smith-Lemli-Opitz syndrome patient.
abstract: Smith-Lemli-Opitz syndrome (SLOS) is a mental retardation/multiple congenital anomaly syndrome. The gene(s) involved has not been mapped or cloned, but, recently, a biochemical abnormality in cholesterol biosynthesis has been shown to occur in most SLOS patients. The defect is suspected to occur in the penultimate step of the cholesterol pathway, involving the enzyme 7-dehydrocholesterol reductase, which has not been isolated. On the basis of the hypothesis that a de novo balanced translocation [t(7;20)(q32.1;q13.2)] in an SLOS patient directly interrupts the SLOS gene, positional cloning techniques are being employed to localize and identify the SLOS gene. We report the identification of a chromosome 7-specific YAC that spans the translocation breakpoint, as detected by FISH. This is the first study narrowing a candidate SLOS region and placing it on physical and genetic maps of the human genome.
authors.affiliation: Department of Pediatrics, Division of Genetics, University of Florida College of Medicine, Gainesville, USA.
authors.forename: T L
authors.initials: TL
authors.lastname: Alley
authors.forename: B A
authors.initials: BA
authors.lastname: Gray
authors.forename: S H
authors.initials: SH
authors.lastname: Lee
authors.forename: S W
authors.initials: SW
authors.lastname: Scherer
authors.forename: L C
authors.initials: LC
authors.lastname: Tsui
authors.forename: G S
authors.initials: GS
authors.lastname: Tint
authors.forename: C A
authors.initials: CA
authors.lastname: Williams
authors.forename: R
authors.initials: R
authors.lastname: Zori
authors.forename: M R
authors.initials: MR
authors.lastname: Wallace
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002784:Cholesterol / Q000097:blood; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D003001:Cloning, Molecular; D003684:Dehydrocholesterols / Q000097:blood; D005260:Female; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics; D014178:Translocation, Genetic / Q000235:genetics*
chemical_list: D003684:Dehydrocholesterols; D005819:Genetic Markers; D002784:Cholesterol; C016705:7-dehydrocholesterol