Mutation Of The Beta Chain Of The High-affinity Immunoglobubulin E Receptor (Fc εRI-β) Gene In Chinese Of Han Nationality

Background:It is hard to define Asthma clinically, so IgE, the important component of asthma, becomes the substitute of genetic research of asthma. The high-affinity Immunoglobubulin E Receptor (Fc epsilon R I ) plays an important role in inimunoreaction. They stick IgE to mast cells, initiate a series of immunoreactions and discharge immuomedia. The 13 subunit of the high-affinity receptor for IgE (Fc ~ R 1 -13) is localized to chromosome 11q13 and has been reported to be in close genetic linkage with a gene for atopy.Objective:Recently we document the prevalence of three mutation in Fc e R (Fc epsilon R I ) -f3 : 1181L, V183L, and E237U in a sample of Chinese of Han Nationality and control subjects to determine whether these variants contribute to the enhanced IgE responses in these groups arid whether the discrepancy in the prevalence of atopy in these groups could be attributed to these variants; Optimize the technique parameters in detection of Fc e R I -13 gene.Methodology:We extract the genome DNA from leukocyte as PCR templet, use Amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) to document the three mutations in Fe e R I -13. ARMS-PCR is an important method for gene diagnosis of Asthma.Results:There was one subject with 1181L mutation found in 60 asthmatics and 65 controls. V183L was not found in our research subjects. 0lu2371Gly237 was detected in ii subjects from a Chinese of Han Nationality sample of 60 asthmatics(18.3%),IllGly237 gene frequency is 9.2%, Glu237/Gly237 was detected in 7 subects from a31-atopic asthIna samPle (22.6%), Gty237 gene frequency is l l.3%, Glu237/Gly237was detected in 4 subects from a 60-contrl samPle (6.2%), Gly237 gene frequency is3. 1%.Conclusion: E237G was fOUnd in Chinese of Han Naionaiity and ther isconfirmation of a association betWen Asthma and the E237G variant of Fc e R I -6in Chinese of Han Nationalty (0.025