Genomic structure of low density lipoprotein receptor related protein 5 gene.
- Author:
Jiangxia LI
1
;
Yaoqin GONG
;
Qiji LIU
;
Bingxi CHEN
;
Chenhong GUO
;
Yishou GUO
Author Information
- Publication Type:Journal Article
- MeSH: Base Sequence; DNA; chemistry; genetics; Exons; Genes; genetics; Humans; Introns; LDL-Receptor Related Proteins; Low Density Lipoprotein Receptor-Related Protein-5; Polymorphism, Single Nucleotide; Receptors, LDL; genetics; Sequence Analysis, DNA
- From: Chinese Journal of Medical Genetics 2002;19(6):467-470
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo determine the genomic structure of low density lipoprotein receptor related protein 5 (LRP5) gene.
METHODScDNA 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.
RESULTSThe 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.
CONCLUSIONThe 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.
