| 高HDL—C个体CETP基因14内含子＋1位G：A突变的检测及其临床意义 |
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| 引用本文： | 丁庆,庄一义.高HDL—C个体CETP基因14内含子＋1位G：A突变的检测及其临床意义[J].上海医学检验杂志,1999,14(1):4-6. |
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| 作者姓名： | 丁庆 庄一义 |
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| 作者单位： | 南京医科大学生化教研组!２１００２９(丁庆，陈丙莺)，南京军区总医院生化科!２１０００２(庄一义) |
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| 摘 要： | 用聚合酶链反应-限制性内切酶酶切片断长度多态性分析的方法检测高ＨＤＬ－Ｃ（ＨＤＬ－Ｃ≥１．７ｍｍｏｌ／Ｌ）个体胆固醇酯转移蛋白（ＣＥＴＰ）基因１４内含子＋１位Ｇ：Ａ突变的阳性率。共检测５０例高ＨＤＬ－Ｃ个体，发现杂合子１２例，纯合子１例，而对照组７０例中无一例发生突变、据此认为ＣＥＴＰ基因１４内含子＋１位Ｇ：Ａ突变是导致高ＨＤＬ－Ｃ的重要因素。
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| 关 键 词： | 胆固醇酯转移蛋白（CETP） 高HDL－C个体 高密度脂蛋白 限制性内切酶酶切片断长度多态性分析 |
Detection of Cholesteryl Ester Transfer Protein Gene Intron 14 Splice Donor Site Mutation in Hyperal-phalipoproteinemia Subjects |
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| Din Qin, Chen Dinyin.Detection of Cholesteryl Ester Transfer Protein Gene Intron 14 Splice Donor Site Mutation in Hyperal-phalipoproteinemia Subjects[J].Shanghai Journal of Medical Laboratory Sciences,1999,14(1):4-6. |
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| Authors: | Din Qin Chen Dinyin |
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| Institution: | Din Qin, Chen Dinyin. Department of Biochemistry, |
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| Abstract: | To detect the positive rate of nitron 14 splice donor site mutation in hyperalphalipoproteinemia subjects, weestablished a polymerase chain reaction (PCR ) -restriction fragment length polymorphism (RFLP) analysis tech-nique. After conventional PCR, amplified DNA was digested with Mspl and subjected to electrophoresis in polyacrylamide gel. The gel was then stained with ethidlium bromide. We examined 50 subjects with high concentrationof high density lipoprotein cholesterol( 1.7 mmol/L) and found I homozygote and 12 heterozygotes. The mis-sense mutation of CETP gene plays an important role in the induction of hyperalphalipoproteinemia. |
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| Keywords: | Hyperalphalipoproteinemia High density lipoprotein mutation Polymerase chain reactionRestriction fragment length polymorphism |
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