Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4

Jeffrey C. Murray, Steven R. Bennett, Anne E. Kwitek, Kent W. Small, Albert Schinzel, Wallace L.M. Alward, James L. Weber, Graeme I. Bell, Kenneth H. Buetow

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Abstract

Rieger syndrome is an autosomal dominant disorder of morphogenesis in which previous cytogenetic arrangements have suggested chromosome 4 as a candidate chromosome. Using a group of highly polymorphic short tandem repeat polymorphisms (STRP), including a new tetranucleotide repeat for epidermal growth factor (EGF), significant linkage of Rieger syndrome to 4q markers has been identified. Tight linkage to EGF supports its role as a candidate gene, although a recombinant in an unaffected individual has been identified. This study demonstrates the utility of using polymorphic STRP markers when only a limited number of small families are available for study.

Original languageEnglish (US)
Pages (from-to)46-49
Number of pages4
JournalNature Genetics
Volume2
Issue number1
DOIs
StatePublished - Sep 1992

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ASJC Scopus subject areas

  • Genetics

Cite this

Murray, J. C., Bennett, S. R., Kwitek, A. E., Small, K. W., Schinzel, A., Alward, W. L. M., Weber, J. L., Bell, G. I., & Buetow, K. H. (1992). Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4. Nature Genetics, 2(1), 46-49. https://doi.org/10.1038/ng0992-46