為從分子遺傳學(xué)水平探討膽囊結(jié)石病的發(fā)病機理，采用聚合酶鏈反應(yīng)等方法研究了87例膽囊結(jié)石患者和50例非結(jié)石者的apoE基因表型及等位基因頻率，并分析了不同apoE基因表型的膽囊結(jié)石患者的血脂質(zhì)代謝特征。結(jié)果顯示：E2/3表型膽囊結(jié)石患者血脂質(zhì)代謝最明顯的特征是甘油三酯(TG)和極低密度脂蛋白-膽固醇(VLDL-C)升高，低密度脂蛋白-膽固醇(LDL-C)降低；E3/3表型膽囊結(jié)石患者脂質(zhì)代謝最典型的特征是高密度脂蛋白-膽固醇(HDL-C、HDL2-C、HDL3-C)顯著下降；E3/4基因表型膽囊結(jié)石患者與E2/3、E3/3患者比較，VLDL-C輕度下降、LDL-C輕度升高。由此表明：同一apoE基因表型膽囊結(jié)石患者的血脂質(zhì)變化比非結(jié)石者突出，不同apoE基因表型的膽囊結(jié)石患者有不同的血脂變化特征，ε2等位基因可能是國人膽囊結(jié)石病的一個高危易患因子。
引用本文： 林琦遠,李寧,程南生,肖路加,傅明德,嚴律南. 載脂蛋白E的基因多態(tài)性、異常脂血癥和膽囊結(jié)石病的關(guān)系. 中國普外基礎(chǔ)與臨床雜志, 1998, 5(2): 70-72. doi: 復(fù)制
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- 2. Weisgraber KH. Apolipoprotein E distribution among human plasma lipoprotein: role of the cysteinearginine interchange at residal 112. J Lipid Res, 1990; 31(9)∶1530.
- 3. 向光大，楊香玖，丁曉華等. NIDDM患者不同血管并發(fā)癥apoE基因型頻率分布的研究. 中華醫(yī)學(xué)遺傳學(xué)雜志， 1995； 12(4)∶197.
- 4. Hixson JE, Vernier DT. Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI. J Lipid Res, 1990; 31(3)∶545.
- 5. Fridwald WT. Estimation of the concentration of LDLch in plasma, without use of the preparative ultracentrifuge. Clin Chem, 1972; 18(6)∶499.
- 6. Wang K Q, He J L, Xie Y H. Studies on human apoliporotein E genetic isoform and their phenotypes among the Chinese population. Proc CAMS and PUMC, 1987; 2(4)∶133.
- 7. Juvonen T, Kervinen K, Kairalumoma MI. Gallstone cholesterol content is related to apolipoprotein E polymorphism. Gastroenterology, 1993; 104(6)∶1806.
- 8. 湯文浩，韓天權(quán)，張圣道. 膽囊結(jié)石患者的血清脂質(zhì)研究. 中國病理生理雜志，1995； 11(2)∶170.
- 9. Thijs C, Knipschild P, Brombacher P. Serum lipids and gallstones a casecontrol study. Gastroenterology, 1990; 99(3)∶843.
- 10. Kamboth MI, Aston CE, Ferrell RE, et al. Impact of apolipoprotein E polymorphism in determining interindividual variation in total cholesterol and low density lipoprotein cholesterol in hispanic and nonhispanic whites.Atherosclerosis, 1993; 98(2)∶201.