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

被引：19
作者：
Karkera, JD
Izraeli, S
Roessler, E
Dutra, A
Kirsch, I
Muenke, M
机构：
[1] NHGRI, Mol Genet Branch, NIH, Bethesda, MD 20892 USA
[2] NCI, Genet Branch, Ctr Canc Res, Bethesda, MD 20892 USA
[3] NHGRI, Cytogenet & Confocal Microscopy Core, NIH, Bethesda, MD 20892 USA
来源：
CYTOGENETIC AND GENOME RESEARCH | 2002年 / 97卷 / 1-2期
关键词：
D O I：
10.1159/000064057
中图分类号：
Q2 [细胞生物学];
学科分类号：
071009 ; 090102 ;
摘要：
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. Copyright (C) 2002 S. Karger AG, Basel.
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页码：62 / 67
页数：6
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