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Murray JC , Bennett SR , Kwitek AE , Small KW , Schinzel A , Alward WLM , Weber JL , Bell GI , Buetow KH
Linkage of Rieger Syndrome to the Region of the Epidermal Growth-Factor Gene on Chromosome-4
Nature Genetics. 1992 Sep;2(1) :46-49
AbstractRieger 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.
NotesEnglish Article JM646 NAT GENET