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Vol. 97, No. 1-2, 2002
Issue release date: 2002
Cytogenet Genome Res 97:62–67 (2002)

The genomic structure, chromosomal localization, and analysis of SIL as a candidate gene for holoprosencephaly

Karkera J.D. · Izraeli S. · Roessler E. · Dutra A. · Kirsch I. · Muenke M.
aMedical Genetics Branch, National Human Genome Research Institute; bGenetics Branch, Center for Cancer Research, National Cancer Institute; cCytogenetic and Confocal Microscopy Core, National Human Genome Research Institute, National Institutes of Health, Bethesda MD (USA)

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Holoprosencephaly (HPE) is the most common congenital malformation of the brain and face in humans. In this study we report the analysis of SIL (SCL interrupting locus) as a candidate gene for HPE. Fluorescent in situ hybridization (FISH) analysis using a BAC 246e16 confirmed the assignment of SIL to 1p32. Computational analysis of SIL at the protein level revealed a 73% overall identity between the human and murine proteins. Denaturing high performance liquid chromatography (dHPLC) techniques were used to screen for mutations and these studies identified several common polymorphisms but no disease-associated mutations, suggesting that SIL is not a common factor in HPE pathogenesis in humans.   

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