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

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

研究成果: Article査読

36 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)186
ページ数1
ジャーナルHuman mutation
19
2
DOI
出版ステータスPublished - 2002 2

ASJC Scopus subject areas

  • 遺伝学
  • 遺伝学(臨床)

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