| Bronchial asthma was chronic airway inflammation in which eosinophil,mast cell and T lymphocyte were involved.It were caused by genetic and environmental factors,Therefore,study of heredity of asthma is an important portion of asthmatic pathogenesis.Early genetic epidemiological study and twins analyses suggested that asthma was a genetic disease and that there were various heredity model .Then the traits connected with asthma such as total IgE,specific IgE,and bronchial hyperresponsiveness were studied.With the development of molecular biology and molecular genetics,it became possible to localizate the asthmatic gene.Because asthma was a complex genetic disease that possesed genetic heterogeneity and was influenced by environment,it was affected by heredity in different races,countries or even different regions.For various reasons,few systematic studies of asthmatic heredity in our country has been performed.In this investigation (1) Traditional epidemiological survey method was used to analyse genetic factor that influenced on the patients of Han nationality in ChongQing China. (2) Asthmatic pedigrees were collected.Relation and inheritance model of total IgE, skin prick test,bronchial hyperresponsiveness and eosinophil were analysed. (3) Asthmatic susceptibility gene was primary localizated by linkage analysis and transmission disequilibrium test. (4) The association between polymorphism of CC16 gene and IL-4receptor gene and asthmatic patients of Han nationality in ChongQing China was detected by polymerase chain reaction -restriction fragment length polymorphism.Results1. The heritability of asthma in ChongQing was 84.64±4.47%.The prevalence rate of first and second degree relative of asthmatic proband were 15.97% and 4.28 respectively,which is higher than the control groud, 2.51%.The segregation ratio was 0.18.2. The relative risk of first degree relative was 7.38, second degree relative 4.25,sibling 4.47.Twenty-eight asthmatic pedigree ( included one hundred twenty four persons) were collected .There were significant differences between asthmatic patients and nomal persons3. in pedigree in BHR,forced expiratory volume in first second and SPT (P<0.01 and P<0.05).There were little significant difference in total IgE and EOS in pedigree member.But there were significant difference in total IgE between pedigree member and the control persons without history of asthma and atopy (P<0.05).4. Eight persons of the nomal persons in pedigree possesed BHR.six of them had higher level total IgE,three of them accompany SPT positive.5. The figures of frequency distribution of BHR and total IgE were bimodal.Persons with BHR and higher level total IgE were 40%.Children whose parents or parent possesed higher level IgE had above 50% higher level total IgE .Higher level IgE accompany SPT positive person were 76%.6. 77.7% of the children were SPT positive whose parent was SPT positive .There was significant difference in the children whose parents were SPT negative (P<0.05).Parents who were both BHR affected on the children most ,as 93.75%.7. Lod score between locus D5S419 of 5 chromosome and BHR was 1.256 ( recombination fraction =0), lod score between locus D11S935 of 11 chromosome and EOS was 1.149.8. There were linkage disequilibrium between D6S1610 ,D9S161 and SPT positive (P<0.05).There were linkage disequilibrium between D11S987 ,D11S1320,D9S161 and higher level total IgE (P<0.05).There were linkage disequilibrium between D9S161 and BHR (P<0.05).9. There was not significant difference in genotype and alleles frequency of CC16 gene in asthmatic and control group.There was not association between genotypes and alleles frequency of the gene and degree of asthma (odds ratio<1, 95%confidence interval 0.284-0.831).10. There was not significant difference in genotype and alleles frequence of IL-4 receptor gene Q576R and S786P in asthmatic and control group. (odds ratio >1,95%confidence interval 0.903-2.609)Conclusion:1. The inheritance pattern of asthma in ChongQing co...
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