The prevalence of plasma platelet-activating factor (PAF) acetylhydrolase deficiency was investigated in 477 healthy Japanese individuals and 985 patients with various cardiovascular diseases. The genotype for this enzyme with regard to a G994-->T mutation (MM, normal; Mm, heterozygote; mm, mutant homozygote) was determined by an allele-specific polymerase chain reaction in 80 subjects shown to have no or low plasma activity (<10 nmol/min/ml). In 72 subjects, the genotype was consistent with plasma enzyme activity; 44 individuals with no activity were mm, and 28 with low activity were Mm. However, eight subjects with the MM genotype showed plasma enzyme activities of <10 nmol/min/ml. Determination of the DNA sequence of exon 9 of the plasma PAF acetylhydrolase gene in these eight subjects revealed a previously unidentified A1001-->G missense mutation, resulting in a Gln281-->Arg substitution, in a 72-year-old woman with coronary artery disease, essential hypertension, and no plasma enzyme activity. Site-directed mutagenesis in vitro showed that the corresponding recombinant mutant protein lacked PAF acetylhydrolase activity. Thus, the Gln281-->Arg substitution appears responsible for the loss of plasma PAF acetylhydrolase activity.

译文

在477名健康的日本人和985名患有各种心血管疾病的患者中调查了血浆血小板活化因子(PAF)乙酰水解酶缺乏症的患病率。通过等位基因特异性聚合酶链反应在80名无或血浆活性低的受试者中确定了与G994-> T突变有关的该酶的基因型(MM,正常; Mm,杂合子; mm,突变纯合子) (<10 nmol / min / ml)。在72名受试者中,基因型与血浆酶活性一致。 mm没有活动的个体为44,而Mm为活动的个体28。但是,有MM基因型的八名受试者显示血浆酶活性<10 nmol / min / ml。在这八名受试者中,血浆PAF乙酰水解酶基因外显子9的DNA序列测定表明,在72岁的冠状动脉女性中,先前未确定的A1001-> G错义突变,导致了Gln281-> Arg替代。动脉疾病,原发性高血压,且无血浆酶活性。体外定点诱变显示相应的重组突变蛋白缺乏PAF乙酰水解酶活性。因此,Gln281-> Arg取代似乎是造成血浆PAF乙酰水解酶活性降低的原因。

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