title: [Genomic structure of low density lipoprotein receptor related protein 5 gene].
abstract: OBJECTIVE
  To determine the genomic structure of low density lipoprotein receptor related protein 5 (LRP5) gene.
  
  
  METHODS
  cDNA sequence encoding LRP5 was used to screen genomic clones containing LRP5 gene by computer hybridization approach. By comparing the cDNA sequence of LRP5 with the genomic sequences, the genomic structure of LRP5 was determined, and then it was conformed by amplifying and sequencing the sequences of exons and splicing junction.
  
  
  RESULTS
  The genomic sequence of LRP5 gene was 131.6 kb in length, containing 23 exons and 22 introns. Three single nucleotide polymorphisms were detected within the coding sequences of LRP5 gene, namely A459G in exon 2, C2220T in exon 10 and G4416C in exon 21. Four polymorphic markers, D11S1917, D11S4087, D11S1337 and D11S4178, located in the 5' flank sequence, introns 1, 4, and 13 of the LRP5 gene, respectively.
  
  
  CONCLUSIONS
  The characterization of genomic structure of LRP5 gene allows the investigators to detect disease-causing mutation within the gene and further study the function of LRP5 gene.
authors.affiliation: Department of Medical Genetics, Medical School of Shandong University, Jinan, Shandong, 250012 P. R. China.
authors.forename: Jiangxia
authors.initials: J
authors.lastname: Li
authors.forename: Yaoqin
authors.initials: Y
authors.lastname: Gong
authors.forename: Qiji
authors.initials: Q
authors.lastname: Liu
authors.forename: Bingxi
authors.initials: B
authors.lastname: Chen
authors.forename: Chenhong
authors.initials: C
authors.lastname: Guo
authors.forename: Yishou
authors.initials: Y
authors.lastname: Guo
mesh_terms: D001483:Base Sequence; D004247:DNA / Q000737:chemistry / Q000235:genetics; D005091:Exons; D005796:Genes / Q000235:genetics; D006801:Humans; D007438:Introns; D026502:LDL-Receptor Related Proteins; D060492:Low Density Lipoprotein Receptor-Related Protein-5; D020641:Polymorphism, Single Nucleotide; D011973:Receptors, LDL / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D026502:LDL-Receptor Related Proteins; C555482:LRP5 protein, human; D060492:Low Density Lipoprotein Receptor-Related Protein-5; D011973:Receptors, LDL; D004247:DNA