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

Research output: Contribution to journalArticlepeer-review

88 Scopus citations

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
Externally publishedYes

ASJC Scopus subject areas

  • Genetics

Fingerprint Dive into the research topics of 'Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4'. Together they form a unique fingerprint.

Cite this