Literature DB >> 11793484

Seven novel sequence variants in the human low density lipoprotein receptor related protein 5 (LRP5) gene.

Minoru Okubo1, Asako Horinishi, Dong-Ho Kim, Tokuo T Yamamoto, Toshio Murase.   

Abstract

We identified seven novel polymorphisms in the human low density lipoprotein receptor related protein 5 (LRP5) gene. Two of them are predicted to replace amino acid in LRP5 protein (c.314A>G: Q89R and c.4037T>C: V1330A), whereas three are silent mutations in the coding region (c.2268T>C: N740N, c.3405A>G: V1119V, and c.4137C>T: D1363D) and two are polymorphisms in introns (IVS10+6T>C and IVS17-30G>A). Since LRP5 recognizes apolipoprotein E and is genetically linked with type 1 diabetes, these novel polymorphisms will be useful in genetic studies of hyperlipoproteinemia and diabetes. To our knowledge, this is the first report in the literature of sequence variants in the human LRP5 gene. Copyright 2002 Wiley-Liss, Inc.

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Year:  2002        PMID： 11793484     DOI： 10.1002/humu.9012

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


  16 in total

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