用于分析人类低密度脂蛋白受体基因突变的软件和数据库。
Software and database for the analysis of mutations in the human LDL receptor gene.
作者信息
Varret M, Rabès J P, Collod-Béroud G, Junien C, Boileau C, Béroud C
机构信息
INSERM U383, Hôpital Necker-Enfants Malades, Université René Descartes, Paris V, 149-161 rue de Sèvres, 75743 Paris Cedex 15, France.
出版信息
Nucleic Acids Res. 1997 Jan 1;25(1):172-80. doi: 10.1093/nar/25.1.172.
Abstract
The low-density lipoprotein receptor (LDLr) plays a pivotal role in cholesterol homeostasis. Mutations in the LDLr gene (LDLR), which is located on chromosome 19, cause familial hypercholesterolemia (FH), an autosomal dominant disorder characterized by severe hypercholesterolemia associated with premature coronary atherosclerosis. To date almost 300 mutations have been identified in the LDLR gene. To facilitate the mutational analysis of the LDLR gene, and promote the analysis of the relationship between genotype and phenotype, a software package along with a computerized database (currently listing 210 entries) have been created.
摘要
低密度脂蛋白受体（LDLr）在胆固醇稳态中起关键作用。位于19号染色体上的低密度脂蛋白受体基因（LDLR）发生突变会导致家族性高胆固醇血症（FH），这是一种常染色体显性疾病，其特征是严重的高胆固醇血症并伴有早发性冠状动脉粥样硬化。迄今为止，已在LDLR基因中鉴定出近300种突变。为便于对LDLR基因进行突变分析，并促进对基因型与表型之间关系的分析，已创建了一个软件包以及一个计算机化数据库（目前列出了210个条目）。
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