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Association Of The Allele Polymorphism Of ORMDL3 Gene At Rs7216389 Locus With Bronchial Asthma

Posted on:2012-10-11Degree:MasterType:Thesis
Country:ChinaCandidate:H C HuangFull Text:PDF
GTID:2214330338469743Subject:Internal Medicine
Abstract/Summary:PDF Full Text Request
Objective:To investigate the frequency and association of the allele polymorphism of ORMDL3 at rs7216389 locus in Han Chinese of Jiangxi.Methods:The experiment is divided two groups:(1) The asthmatic group included 80 patients with asthma (43males, and 37 females); (2) The normal control group included 84 healthy individuals (46males, and 38 females). Using DNA extraction reagent box extract genome team DNA. rs7216389 locus allele in ORMDL3 gene was analyzed by Polymerase chain reaction-restriction Fragment length Polymorphism (PCR-RFLP) in both groups. Distribution of rs7216389 locus genotypes and frequency of rs7216389 locus allele were compared between the two groups. The frequency of rs7216389 locus allele in Han Chinese of Jiangxi was also compared with that in Puerto Ricans, Mexicans, German, British.Results:(1) The frequencies of genotype of TT, TC and CC were respectively 30,36 and 14 in asthmatic subjects, which were in good agreement with Hardy-Weinberg equilibrium (χ2=0.108, P>0.05). The frequencies of genotype of TT, TC and CC were respectively 18,40 and 26 in normal control, which were in agreement with Hardy-Weinberg equilibrium (χ2=0.097, P>0.05). (2) Significant difference was found in the allele (T, C) frequency among populations in different ethnic populations (χ2=19.31, P<0.05). (3) In the asthmatic patients the frequencies of T and C of rs7216389 locus allele in ORMDL3 gene were 60.0% and 40.0%, respectively, and the genotype frequencies of (TT, TC, CC) were 37.5%,45.0% and 17.5%, respectively. In normal control the frequencies of locus allele were 45.2% and 54.8%, respectively, and the genotype frequencies of (TT, TC, CC) were 21.4%,47.6% and 31.0%, respectively. There was significant difference was observed between the asthmatics and normal controls (χ2 value were 6.72,7.16, respectively, all P<0.05). (4) The presence of TT+TC and TT genotypes can significantly increase the probability of asthma. The odds ratio (OR) of TT+TC and TT were 2.113 (1.009~4.426),3.095 (1.292~7.417), respectively. When compared with CC genotype, all P<0.05.Conclusions:(1) The rs7216389 locus genetic polymorphism was found to exist widely in different ethnic populations, including the Han Chinese of Jiangxi, and the significance difference in the distribution frequency was observed. (2) The rs7216389 locus genetic polymorphism is associated with susceptibility of asthma in Han Chinese of Jiangxi, the T allele in ORMDL3 gene was found to be a susceptibility gene in asthma.
Keywords/Search Tags:ORMDL3 Genes, Asthma, Genetic Polymorphism, PCR-RFLP
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