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

doi:10.1038/ng0992-46

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 journal › Article › peer-review

99 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 language	English (US)
Pages (from-to)	46-49
Number of pages	4
Journal	Nature Genetics
Volume	2
Issue number	1
DOIs	https://doi.org/10.1038/ng0992-46
State	Published - Sep 1992
Externally published	Yes

ASJC Scopus subject areas

Genetics

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title = "Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4",

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.",

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

year = "1992",

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AU - Murray, Jeffrey C.

AU - Bennett, Steven R.

AU - Kwitek, Anne E.

AU - Small, Kent W.

AU - Schinzel, Albert

AU - Alward, Wallace L.M.

AU - Weber, James L.

AU - Bell, Graeme I.

AU - Buetow, Kenneth H.

PY - 1992/9

Y1 - 1992/9

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AB - 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.

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

Abstract

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