PMID- 10458906
OWN - NLM
STAT- MEDLINE
DCOM- 19990930
LR  - 20071114
IS  - 0888-7543 (Print)
IS  - 0888-7543 (Linking)
VI  - 60
IP  - 1
DP  - 1999 Aug 15
TI  - 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).
PG  - 12-9
AB  - 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.
CI  - Copyright 1999 Academic Press.
FAU - Wang, C Y
AU  - Wang CY
AD  - Immunology and Laboratory Medicine, University of Florida, Gainesville, Florida, 
      32610, USA.
FAU - Shi, J D
AU  - Shi JD
FAU - Huang, Y Q
AU  - Huang YQ
FAU - Cruz, P E
AU  - Cruz PE
FAU - Ochoa, B
AU  - Ochoa B
FAU - Hawkins-Lee, B
AU  - Hawkins-Lee B
FAU - Davoodi-Semiromi, A
AU  - Davoodi-Semiromi A
FAU - She, J X
AU  - She JX
LA  - eng
GR  - 1R01DK53266/DK/NIDDK NIH HHS/United States
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Genomics
JT  - Genomics
JID - 8800135
RN  - 0 (Genetic Markers)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Bacteriophage P1/genetics
MH  - Chromosomes, Bacterial/genetics
MH  - Chromosomes, Human, Pair 10/*genetics
MH  - Cloning, Molecular
MH  - Contig Mapping
MH  - DNA/*genetics
MH  - *Facial Expression
MH  - Family Health
MH  - Female
MH  - Genetic Markers
MH  - Haplotypes
MH  - Humans
MH  - Male
MH  - Pedigree
MH  - Physical Chromosome Mapping
MH  - Polymorphism, Genetic
MH  - Syndrome
MH  - Urinary Bladder, Neurogenic/*genetics
EDAT- 1999/08/25 00:00
MHDA- 1999/08/25 00:01
CRDT- 1999/08/25 00:00
PHST- 1999/08/25 00:00 [pubmed]
PHST- 1999/08/25 00:01 [medline]
PHST- 1999/08/25 00:00 [entrez]
AID - 10.1006/geno.1999.5908 [doi]
AID - S0888-7543(99)95908-6 [pii]
PST - ppublish
SO  - Genomics. 1999 Aug 15;60(1):12-9. doi: 10.1006/geno.1999.5908.