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 Citations (Scopus)

Abstract

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
Volume84
Issue number5
DOIs
StatePublished - Jun 1 1999
Externally publishedYes

Fingerprint

Oxaloacetic Acid
Transaminases
Glutamic Acid
Mutation
Genes
Facial Expression
Haplotypes
Clone Cells
Chromosomes
Urofacial syndrome

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

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

In: American Journal of Medical Genetics, Vol. 84, No. 5, 01.06.1999, p. 454-459.

Research output: Contribution to journalArticle

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