Genomic structure of low density lipoprotein receptor related protein 5 gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 467-470, 2002.
Article
em Zh
| WPRIM
| ID: wpr-248527
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To determine the genomic structure of low density lipoprotein receptor related protein 5 (LRP5) gene.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>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.</p>
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Índice:
WPRIM
Assunto principal:
DNA
/
Receptores de LDL
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Sequência de Bases
/
Íntrons
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Química
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Éxons
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Análise de Sequência de DNA
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Polimorfismo de Nucleotídeo Único
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Proteínas Relacionadas a Receptor de LDL
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Proteína-5 Relacionada a Receptor de Lipoproteína de Baixa Densidade
Limite:
Humans
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2002
Tipo de documento:
Article