title: Construction of a physical and transcript map for a 1-Mb genomic region containing the urofacial (Ochoa) syndrome gene on 10q23-q24 and localization of the disease gene within two overlapping BAC clones (<360 kb).
abstract: Urofacial (Ochoa) syndrome is an autosomal recessive disease characterized by distorted facial expression and urinary abnormalities. Previously, we mapped the UFS gene to chromosome 10q23-q24 and narrowed the interval to one YAC clone of 1410 kb. Here, we have constructed a BAC/PAC contig of the 1-Mb region using STS content mapping with 42 BAC/PAC-end sequences, 9 previously reported and 16 newly identified microsatellite markers, and 14 EST markers. A total of 26 polymorphic microsatellite markers were genotyped for 31 UFS patients from Colombia and 2 patients from the United States. Haplotype analyses suggest that the UFS gene is located within two overlapping BAC clones, a region of <360 kb of DNA sequence. We tested 42 EST markers previously mapped to the D10S1709-D10S603 interval against the BAC/PAC contig and identified 11 ESTs located in the 1-Mb region. Four of the 11 ESTs mapped to the 360-kb UFS critical region. Shotgun sequencing of the two BAC clones and BLASTN search of the EST databases revealed 3 other ESTs contained in the UFS critical region. These results will facilitate the cloning and identification of the UFS gene.
authors.affiliation: Immunology and Laboratory Medicine, University of Florida, Gainesville, Florida, 32610, USA.
authors.forename: C Y
authors.initials: CY
authors.lastname: Wang
authors.forename: J D
authors.initials: JD
authors.lastname: Shi
authors.forename: Y Q
authors.initials: YQ
authors.lastname: Huang
authors.forename: P E
authors.initials: PE
authors.lastname: Cruz
authors.forename: B
authors.initials: B
authors.lastname: Ochoa
authors.forename: B
authors.initials: B
authors.lastname: Hawkins-Lee
authors.forename: A
authors.initials: A
authors.lastname: Davoodi-Semiromi
authors.forename: J X
authors.initials: JX
authors.lastname: She
mesh_terms: D017101:Bacteriophage P1 / Q000235:genetics; D002876:Chromosomes, Bacterial / Q000235:genetics; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D003001:Cloning, Molecular; D020451:Contig Mapping; D004247:DNA / Q000235:genetics*; D005149:Facial Expression; D005192:Family Health; D005260:Female; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D008297:Male; D010375:Pedigree; D020161:Physical Chromosome Mapping; D011110:Polymorphism, Genetic; D013577:Syndrome; D001750:Urinary Bladder, Neurogenic / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D004247:DNA