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.
- Author:
Kai FENG
1
;
Gang-qiao ZHOU
;
Yun ZHAI
;
Pei-fang ZHU
;
Zheng-guo WANG
;
Fu-chu HE
;
Jian-xin JIANG
Author Information
- Publication Type:Journal Article
- MeSH: Amino Acid Sequence; Asian Continental Ancestry Group; Cell Membrane; metabolism; Computational Biology; Exons; genetics; Humans; Hydrophobic and Hydrophilic Interactions; Introns; genetics; Molecular Sequence Data; Polymorphism, Single Nucleotide; Protein Structure, Secondary; Protein Structure, Tertiary; Receptors, Interleukin-1 Type I; chemistry; genetics; metabolism; Sequence Homology, Amino Acid
- From: Chinese Journal of Medical Genetics 2004;21(4):316-320
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo 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.
METHODSThe 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.
RESULTSSixteen 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.
CONCLUSIONThe SNP in the IL-1R1 gene might influence its function as an important receptor of IL-1 family.
