广西科学
廣西科學
엄서과학
GUANGXI SCIENCES
2014年
6期
671-676
,共6页
氨基酸对%囊性纤维化%囊性纤维化跨膜电导调节子%变异模式
氨基痠對%囊性纖維化%囊性纖維化跨膜電導調節子%變異模式
안기산대%낭성섬유화%낭성섬유화과막전도조절자%변이모식
amino-acid pair%cystic fibrosis%cystic fibrosis transmembrane conductance regulator (CFTR)%mutation pattern
【目的】编码囊性纤维化跨膜电导调节子（Cystic fibrosis transmembrane conductance regulator，CFTR）蛋白的基因突变可引起囊性纤维化，但该蛋白错义点突变的变异模式尚无报道。【方法】先用氨基酸对可预测性为指标将人CFTR蛋白及其178个错义点突变的氨基酸序列转换成标量序列，然后分析变异前后被替换掉的和替换出的氨基酸对的变化。【结果】97．19％的变异发生在不可预测的氨基酸对；87．08％的变异涉及1个或2个被替换掉的氨基酸对，其实际频率大于预测频率；15．17％的变异带来1个或2个替换出的氨基酸对，它们在正常的CFTR蛋白是不存在的；共有122个变异导致替换出的氨基酸对的实际频率小于预测频率。【结论】不可预测的氨基酸对对变异更敏感，变异的趋势是缩小氨基酸对实际频率和预测频率之间的差距，使氨基酸对的构成更加随机化，而人CFTR蛋白的这种退行性变导致了囊性纤维化。
【目的】編碼囊性纖維化跨膜電導調節子（Cystic fibrosis transmembrane conductance regulator，CFTR）蛋白的基因突變可引起囊性纖維化，但該蛋白錯義點突變的變異模式尚無報道。【方法】先用氨基痠對可預測性為指標將人CFTR蛋白及其178箇錯義點突變的氨基痠序列轉換成標量序列，然後分析變異前後被替換掉的和替換齣的氨基痠對的變化。【結果】97．19％的變異髮生在不可預測的氨基痠對；87．08％的變異涉及1箇或2箇被替換掉的氨基痠對，其實際頻率大于預測頻率；15．17％的變異帶來1箇或2箇替換齣的氨基痠對，它們在正常的CFTR蛋白是不存在的；共有122箇變異導緻替換齣的氨基痠對的實際頻率小于預測頻率。【結論】不可預測的氨基痠對對變異更敏感，變異的趨勢是縮小氨基痠對實際頻率和預測頻率之間的差距，使氨基痠對的構成更加隨機化，而人CFTR蛋白的這種退行性變導緻瞭囊性纖維化。
【목적】편마낭성섬유화과막전도조절자（Cystic fibrosis transmembrane conductance regulator，CFTR）단백적기인돌변가인기낭성섬유화，단해단백착의점돌변적변이모식상무보도。【방법】선용안기산대가예측성위지표장인CFTR단백급기178개착의점돌변적안기산서렬전환성표량서렬，연후분석변이전후피체환도적화체환출적안기산대적변화。【결과】97．19％적변이발생재불가예측적안기산대；87．08％적변이섭급1개혹2개피체환도적안기산대，기실제빈솔대우예측빈솔；15．17％적변이대래1개혹2개체환출적안기산대，타문재정상적CFTR단백시불존재적；공유122개변이도치체환출적안기산대적실제빈솔소우예측빈솔。【결론】불가예측적안기산대대변이경민감，변이적추세시축소안기산대실제빈솔화예측빈솔지간적차거，사안기산대적구성경가수궤화，이인CFTR단백적저충퇴행성변도치료낭성섬유화。
Objective]Mutations in the gene that encodes the fibrosis transmembrane conductan-ce regulator (CFTR)protein can cause cystic fibrosis but the patterns of missense mutations in CFTR protein haven’t yet been reported.[Methods]The amino-acid pair predictability was used to convert the CFTR protein with its 178 missense mutations into scalar sequences,and then the substituted and substituting amino-acid pairs were analysed before and after mutation.[Re-sults]97.19% of mutations occurred in unpredictable amino acid pairs.87.08% of mutations targeted one or both substituted amino acid pairs whose actual frequency was larger than their predicted one.1 5 .1 7% mutations resulted in one or both substituting amino-acid pairs that were absent before mutation.A total of 122 mutations brought about the substituting amino-acid pairs with their actual frequency smaller than predicted one.[Conclusion]The unpredicta-ble amino-acid pairs are more sensitive to muta-tion,and the mutation trend is to narrow the difference between predicted and actual frequen-cy of amino-acid pairs,thus the composition of a-mino acid pairs becomes more randomized,which leads the human CFTR protein degenerative and causes cystic fibrosis.
