등전점 전기영동을 이용한 Properdin Factor B의 유전적 분석과 유전자 빈도 = GENETIC ANALYSIS AND GENE FREQUENCY OF PROPERDIN FACTOR B(BF) BY ISOELECTROFOCUSING

국문 초록 (Abstract)

Properdin Factor B(BF)의 유전적 다형현상은 등전점 電氣泳動후 anti human properdin factor B serum을 사용하여 immunoblotting방법으로 조사했고, BF의 단백질양 측정은 single radial immunodiffusion으로 측정했다. Complement 4의 유전인자 형은 agarose 전기영동 후 Immunofixation방법으로 하였다. 대상은 서울에 거주하는 남녀 227명이며 BF FB1 인자가 있는 두 가족은 가족들도 조사하였다.
BF 표현형의 빈도는 S, FS, F, FB1S, FB1S04, SS07, 이 각각 61.8%, 29.1%, 5.7%, 2.6%, 0.4%, 0.4%이었다. 각 BF allele의 빈도는 BF*S, BF*F, BF*FB1, BF*S07, BF*S04가 0778, 0203, 0015, 0002, 0002이었다.
BF*FB1 유전인자는 두 가족연구에 의해 공우성으로 유전됨을 알 수 있었다. BF allele의 빈도는 민족집단에 따라 차이가 있으며 BF*FB1 allele는 몽고인종에서만 보고 되어; 韓國人에서 0.015, 日本人에서 0.015. 中國人에서 0.010으로 나타났고, 백인종과 흑인종에서는 아직 보고된 바가 없다. 특히 BF*FB1 allele와 C4와의 관계는 C4A 3,-와 C4B 2,-가 연관이 있음을 알수 있었다.(x²=8.07, 0.002＜P＜0.005).
혈장 중의 BF 단백질 평균양은 21.3±5.61mg/dl(N=66)로 각 표현형별로 보면 BF S가 19.4±4.56mg/dl(N=22) BF FS는 21.9±5.96mg/dl(N=22), BF F는 22.2±5.38mg/dl(N=13), BF FB1S는 23.6±6.48mg/dl(N=8)이었다. BF 표현형의 단백질양은 BF FB1S＞BF F＞ BF FS＞ BF S 순이었으나 통계적 유의차는 없었다.

다국어 초록 (Multilingual Abstract)

The genetic polymorphism of BF was investigated by IEF and immunoblotting using antihuman properdin factor B serum. The level of Factor B was measured by single radial immunodiffusion. C4 allotype was carried out by agarose electrophoresis, followed by immunofixation. The EDTA plasma samples were collected from 227 unrelated healthy Korean and afterwards the subjects containing BF FBI were analysed for C4.
The frequencies of the BF phenotypes S, FS, F, FB1S, FB1S04, and SS07 were 61.8%, 29.1%, 5.7%, 2.6%, 0.4%, and 0.4%, respectively. The estimated allele frequencies for BF*S, BF*F, BF*FB1, BF*S07 and BF*S04 were 0.778, 0.203, 0.015, 0.002, and 0.002, respectively. The BF*FB1 allele was observed to be inherited in an autosomal codominant pattern by two family study. The frequencies of BF alleles vary in different ethnic groups, for example BF FB1 gene occurs in Mongoloid; Korean(0.015), Japanese(0.022), and Chinese(0.010), while the gene has not been observed yet in Caucasoid and Negroid populations. BF*FB1 shows strongly association with C4A 3,- and C4B 2, -(x²=8.07, 0.002＜p＜0.005).
The mean protein level of BF is 21.28±5.61mg/dl(N=66). Those of BF S, BF FS, BF F, and BF FB1S are 19.43±4.56mg/dl(N=22), 21.87±5.96mg/dl(N=22), 22.21±5.38mg/dl(N=13) and 23.63±6.48mg/dl(N=8). The mean protein level of phenotypes varies in the order of BF FB1S ＞BF F ＞BF FS ＞BF S but those of BF were not significantly different among BF phenotypes.