PMID- 10360399
OWN - NLM
STAT- MEDLINE
DCOM- 19990823
LR  - 20071114
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 84
IP  - 5
DP  - 1999 Jun 11
TI  - Genetic homogeneity, high-resolution mapping, and mutation analysis of the
      urofacial (Ochoa) syndrome and exclusion of the glutamate oxaloacetate
      transaminase gene (GOT1) in the critical region as the disease gene.
PG  - 454-9
AB  - The urofacial (Ochoa) syndrome (UFS) is a rare autosomal recessive disorder
      characterized by abnormal facial expression and urinary abnormalities.
      Previously, we mapped the gene to a genomic interval of approximately 1 cM on
      chromosome region 10q23-24, using families from Columbia. Here we demonstrate
      genetic homogeneity of the syndrome through homozygosity mapping in American
      patients with Irish heritage. We established a physical map and identified novel 
      polymorphic markers in the UFS critical region. Haplotype analysis using the new 
      markers mapped the UFS gene within one YAC clone of 1,410 kb. We also determined 
      the precise location of the gene encoding for glutamate oxaloacetate transaminase
      (GOT1) within the new UFS critical region and determined its genomic structure.
      However, mutation analysis excluded GOT1 as a candidate for the UFS gene.
FAU - Wang, C Y
AU  - Wang CY
AD  - Department of Pathology, Immunology and Laboratory Medicine, Center for Mammalian
      Genetics, College of Medicine, University of Florida, Gainesville 32610, USA.
FAU - Huang, Y Q
AU  - Huang YQ
FAU - Shi, J D
AU  - Shi JD
FAU - Marron, M P
AU  - Marron MP
FAU - Ruan, Q G
AU  - Ruan QG
FAU - Hawkins-Lee, B
AU  - Hawkins-Lee B
FAU - Ochoa, B
AU  - Ochoa B
FAU - She, J X
AU  - She JX
LA  - eng
SI  - GENBANK/AF080459
SI  - GENBANK/AF080460
SI  - GENBANK/AF080461
SI  - GENBANK/AF080462
SI  - GENBANK/AF080463
SI  - GENBANK/AF080464
SI  - GENBANK/AF080465
SI  - GENBANK/AF080466
SI  - GENBANK/AF080467
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  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - EC 2.6.1.1 (Aspartate Aminotransferases)
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Aspartate Aminotransferases/*genetics
MH  - Base Sequence
MH  - Chromosomes, Human, Pair 10/*genetics
MH  - DNA Mutational Analysis
MH  - Exons
MH  - Face/*abnormalities
MH  - Genes, Recessive
MH  - Haplotypes
MH  - Homozygote
MH  - Humans
MH  - Introns
MH  - Microsatellite Repeats/genetics
MH  - Molecular Sequence Data
MH  - *Physical Chromosome Mapping
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - Sequence Analysis, DNA
MH  - Syndrome
MH  - Urinary Tract/*abnormalities
EDAT- 1999/06/09 10:00
MHDA- 2000/06/20 09:00
CRDT- 1999/06/09 10:00
PHST- 1999/06/09 10:00 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1999/06/09 10:00 [entrez]
AID - 10.1002/(SICI)1096-8628(19990611)84:5<454::AID-AJMG9>3.0.CO;2-D [pii]
PST - ppublish
SO  - Am J Med Genet. 1999 Jun 11;84(5):454-9.