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KMID : 0854720010210020187
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Korean Journal of Asthma, Allergy and Clinical Immunology
2001 Volume.21 No. 2 p.187 ~ p.197
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β2-adrenoceptor polymorphism in Korean nuclear families with probands of asthmatic children
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Kim Sang-Hoon
Oh Sun-Young
Oh Heung-Bum
Kim Yoon-Keun
Cho Sang-Heon
Koh Young-Yull
Min Kyung-Up
Kim You-Young
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Abstract
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Background： Polymorphisms at amino acid positions 16 and 27 of t he β2 - adrenoceptor gene are known to be functionally relevant to ast hma severity. However, there has been no data concerning frequency of β2 - adrenoceptor gene polymorphisms of t heir role in t he expression of ast hmatic phenotypes in Korean nuclear families.
Obj ectives : The aims of this study were to evaluat e frequency of polymorphisms at amino acids 16 and 27 of β2 - adrenoceptor gene and to determine t heir role in the expression of ast hmatic phenot ypes such as bronchial responsiveness and tot al serum IgE levels in Korean nuclear families with probands of ast hmatic children.
Subj ects and Method : T wo hundred forty-one individuals from 71 Korean nuclear families were enrolled wit h probands of ast hmatic children. Asthmatic phenotypes such as asthma diagnosed by physician, serum total IgE, skin responses to common aeroallergens, and bronchial responsiveness were det ermined using physician’s int erview, ELISA and met hacholine bronchial provocation t ests, respectively. Polymorphisms at amino acids 16 and 27 of β2 - adrenoceptor gene were determined using PCR-based methods such as allele-specific PCR and PCR-RFLP .
Results : Frequency of mut ant forms at amino acids 16 (Arg -> Gly ) and 27 (Gln - > Glu ) was 49.4% and 9.8%, respectively. Linkage disequilibrium was observed between Gly16 and Glu27 alleles and between Arg16 and Gln27 alleles, but there was no Arg16-Glu27 haplotype. Haplotypes of amino acids 16 and 27 were not associat ed wit h ast hma phenotypes such as asthma diagnosed
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KEYWORD
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β2-adrenoceptor, polymorphism, bronchial hyperresponsiveness, asthma, family,
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