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

Cong Yi Wang, Yi Qun Huang, Jing Da Shi, Michele P. Marron, Qing Guo Ruan, Bobbilynn Hawkins Lee, Bernardo Ochoa, Jin-Xiong She

Research output: Contribution to journalArticle

15 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)454-459
Number of pages6
JournalAmerican Journal of Medical Genetics
Issue number5
Publication statusPublished - Jun 1 1999
Externally publishedYes



  • GOT1
  • Homozygosity mapping
  • Physical mapping
  • Positional cloning
  • Urofacial (Ochoa) syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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