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천식 환아의 형제에서 혈청 총 IgE 농도와 염색체 11q13 유전형 사이의 연관성
김윤근,손지웅,조상헌,이명현,고영률,민경업,김유영 ( Yoon Keun Kim,Jee Wong Son,Sang Heon Cho,Myung Hyun Lee,Young Yull Koh,Kyung Up Min,You Young Kim ) 대한천식알레르기학회 1998 천식 및 알레르기 Vol.18 No.3
Backgrmcnd; It is known that total serum IgE levels closely corrleate with prevaience of asthma regardless of atopic status. Although heredity is reported to be important in expression of total serum IgE in twin studies, genetic factor controlling this phenotype is controversial. Objective .' To evaluate whether genetic factor in chromosome 1 1q13 may control the expres- sion of tatal serum IgE level, linkage analysis between this phenotype and gene marker of chromosome 11q13 was investigated. Material and method: Total serum IgE level and the genotype of chromosome 11q13 with microsatellite marker (D11597) was determined in 73 probands of asthmatic chiMren and 76 their sibs. Statistical significance of linkage was evaluated by affected and quantitative trait locus (QTL) sib-pair analysis. Result: In 20 affected sib-pairs with total serum IgE level higher than 305 IU/ml (geometric mean plus two folds SD in 53 normal controls), two D11S97 alleles were shared by ten sib- pairs, one allele by nine sib-pairs, and no allele by one sib-pairs. Sharing rate of the alleles in affect,ed sib-pairs, was 72.5%, which indicates linkage of the phenotype and genotype (x=4. 27, p=0.03). In 35 sib-pairs with total serum IgE level higher than 170 IU/ml (geometric mean plus one fold SD in 53 normal controls), two D11S97 alleles were shared by 16 sib-pairs, one allele by 15 sib-pairs, and no allele by four sib-pairs. The shar ing rate of the alleles in affected sibpairs, was 67.1%, which indicates linkage of the phenotype and the genotype(x=4. 24, p=0.03). Difference of geometric value of total serum IgE levels between probands and their sibs wa,s smaller in 32 sib-pairs sharing two alleles than in 32 those sharing one allele and 12 those with no identical allele (0.45+0.07 vs. 0.52+0.07 vs. 0.89 +0.21). Conclasion .' The expression of total serum IgE level was linked to gene marker of chromosome 11q13.