The genomic structure, chromosomal localization, and analysis of SIL as a candidate gene for holoprosencephaly
The genomic structure, chromosomal localization, and analysis of SIL as a candidate gene for holoprosencephaly
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DOI：
10.1159/000064057
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发表时间：
2002-01-01
影响因子：
1.7
通讯作者：
Muenke, M
中科院分区：
文献类型：
--
作者：
Karkera, JD;Izraeli, S;Muenke, M
前脑无裂畸形（HPE）是人类最常见的大脑和面部先天畸形。在这项研究中，我们报告了分析SIL（SCL中断位点）作为HPE的候选基因。使用BAC 246e16的荧光原位杂交（FISH）分析证实SIL为1p32。在蛋白质水平上对SIL的计算分析显示，人和鼠蛋白质之间的总体同一性为73%。变性高效液相色谱（dHPLC）技术用于筛选突变，这些研究确定了几种常见的多态性，但没有疾病相关的突变，表明SIL不是人类HPE发病机制的常见因素。版权所有（C）2002 S. Karger AG，巴塞尔。
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.