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首页> 外文期刊>Translational research: the journal of laboratory and clinical medicine >Evaluation of clinical diagnosis criteria of familial ligand defective apoB 100 and lipoprotein phenotype comparison between LDL receptor gene mutations affecting ligand-binding domain and the R3500Q mutation of the apoB gene in patients from a South European population
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Evaluation of clinical diagnosis criteria of familial ligand defective apoB 100 and lipoprotein phenotype comparison between LDL receptor gene mutations affecting ligand-binding domain and the R3500Q mutation of the apoB gene in patients from a South European population

机译：评价欧洲南部人群患者家族配体缺陷apoB 100的临床诊断标准以及影响配体结合结构域的LDL受体基因突变和apoB基因的R3500Q突变之间脂蛋白表型的比较

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Familial hypercholesterolemia (FH) and familial defective apoB 100 (FDB) are characterized by increased plasma low-density lipoprotein cholesterol (LDLc) levels and risk of coronary heart disease (CHD). FDB is clinically indistinguishable from FH. The aims of this study were to evaluate clinical diagnosis criteria for FDB and to compare the lipoprotein phenotype between carriers of LDL receptor (LDLR) gene mutations that affect the ligand-binding domain and subjects with the R3500Q mutation in apoB gene. We studied 213 subjects (113 probands) with FH and 19 heterozygous FDB subjects. Genetic diagnosis was determined by following a protocol based on Southern blot and polymerase chain reaction-single strand conformation polymorphism (SSCP) analysis. Thirty FH carriers of LDLR gene missense mutations that affect ligand-binding domain were matched by age, gender, and body mass index to the 19 FDB subjects (R3500Q mutation). Lipoprotein phenotype comparison was conducted between the 2 groups. FH patients showed plasma total and LDL cholesterol levels significantly higher than those in FDB patients. Three FDB showed plasma total and LDLc values in the normal range. Using the 1999 clinical Med-Ped criteria for diagnosis of genetic hypercholesterolemia, no FDB subjects had a confirmed diagnosis; it was probable in 36% of the subjects, it was possible in 32% of the subjects, and it could be excluded in the remaining 32% of the subjects. We conclude that the FDB lipoprotein phenotype was significantly less severe than that observed in FH carriers of LDLR gene missense ligand-binding domain mutations. Clinical Med-Ped diagnosis criteria tend to under-diagnose FDB.
机译：家族性高胆固醇血症（FH）和家族性缺陷载脂蛋白100（FDB）的特征在于血浆低密度脂蛋白胆固醇（LDLc）水平升高和冠心病（CHD）的风险。 FDB在临床上与FH没有区别。这项研究的目的是评估FDB的临床诊断标准，并比较影响配体结合结构域的LDL受体（LDLR）基因突变携带者和apoB基因中具有R3500Q突变的受试者之间的脂蛋白表型。我们研究了213名FH受试者（113个先证者）和19名杂合FDB受试者。通过遵循基于Southern印迹和聚合酶链反应-单链构象多态性（SSCP）分析的方案确定遗传诊断。 LDLR基因错义突变的30个FH携带者会影响19位FDB受试者（R3500Q突变）的年龄，性别和体重指数，从而影响配体结合结构域。两组之间进行脂蛋白表型比较。 FH患者的血浆总胆固醇和LDL胆固醇水平明显高于FDB患者。三个FDB显示血浆总含量和LDLc值在正常范围内。使用1999年Med-Ped临床诊断遗传性高胆固醇血症的标准，没有FDB受试者得到确诊。在36％的受试者中可能是这样，在32％的受试者中是可能的，而在其余32％的受试者中可以排除。我们得出的结论是，FDB脂蛋白表型的严重性明显低于LDLR基因错义配体结合域突变的FH携带者。临床Med-Ped诊断标准倾向于对FDB的诊断不足。

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