An investigation of polymorphism in IL-1R1 gene in Chinese population and the functional prediction of a variation in the transmembrane region of IL-1R1 / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 316-320, 2004.
Article
in Zh
| WPRIM
| ID: wpr-328887
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To identify the single nucleotide polymorphisms (SNPs) in the regulatory and coding regions of human interleukin-1 receptor type I (IL-1R1) gene and to assess their potential effect on the function of IL-1R1.</p><p><b>METHODS</b>The 5' flank region, exons, parts of the introns, as well as 3' flank region of IL-1R1 gene were sequenced to identify and characterize the SNPs in Chinese population. Effects of the SNP on the structure and function of IL-1R1 were analyzed by computational methods.</p><p><b>RESULTS</b>Sixteen SNPs were identified through a 9643 bp sequencing of IL-1R1 gene. Among them, four were in 5' flank region, four in intron region, one in coding region, and seven in 3' untranslated region. A novel SNP in Chinese population was involved in a structural change in IL-1R1, which may influence the signal transduction of IL-1R1.</p><p><b>CONCLUSION</b>The SNP in the IL-1R1 gene might influence its function as an important receptor of IL-1 family.</p>
Full text:
1
Database:
WPRIM
Main subject:
Molecular Sequence Data
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Introns
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Cell Membrane
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Chemistry
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Exons
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Amino Acid Sequence
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Sequence Homology, Amino Acid
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Protein Structure, Tertiary
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Protein Structure, Secondary
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Computational Biology
Type of study:
Prognostic_studies
Limits:
Humans
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2004
Document type:
Article