CAJ | 학술논문

目的：观察我国汉族正常人和2型糖尿病（T2DM）患者Caveolin-3（CAV3）基因的多态性差异，并介绍一种研究CAV3相关遗传病的实用方法。方法：CAV3基因只有2个很短的外显子，使用PCR-SSCP进行筛查，然后选择性测序。针对性地设计引物，经过PCR-SSCP分别测定50例正常人和50例T2DM样本的基因外显子基因多态性情况。结果：PCR-SSCP发现T2DM患者CAV3基因电泳变异累计发生率为48％，而正常人变异累计发生率为7％，存在显著差异（P＜0．001）。抽查变异条带，测序证实发生了碱基变异。结论：中国人T2DM的CAV3基因存在增加的多态性特征，PCR-SSCP法可有效地进行初步筛查；提示CAV3基因多态性可能是中国人T2DM发生的遗传背景之一。
목적：관찰아국한족정상인화2형당뇨병（T2DM）환자Caveolin-3（CAV3）기인적다태성차이，병개소일충연구CAV3상관유전병적실용방법。방법：CAV3기인지유2개흔단적외현자，사용PCR-SSCP진행사사，연후선택성측서。침대성지설계인물，경과PCR-SSCP분별측정50례정상인화50례T2DM양본적기인외현자기인다태성정황。결과：PCR-SSCP발현T2DM환자CAV3기인전영변이루계발생솔위48％，이정상인변이루계발생솔위7％，존재현저차이（P＜0．001）。추사변이조대，측서증실발생료감기변이。결론：중국인T2DM적CAV3기인존재증가적다태성특정，PCR-SSCP법가유효지진행초보사사；제시CAV3기인다태성가능시중국인T2DM발생적유전배경지일。
Objective To observe the difference of caveolin-3(CAV3) gene polymorphism between normal people and diabetic patients in Chinese Han population. Methods Exon gene polymorphism in 50 normal people and 50 T2DM patients were detected by PCR-SSCP. Results The cumulative incidence rate of electrophoretic variation in T2DM patients was 48%, while cumulative incidence rate of normal people was 7%(P<0.001). It was proved that in the variant bands, there were base variant. Conclusions The variant base number of CAV3 gene in human T2DM samples are significantly more than the normal which can be preliminary detected by PCR-SSCP. It indicates that CAV3 gene polymorphism may be one of the genetic backgrounds for the occurence of Chinese T2DM.