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首页> 外文期刊>Clinical immunology: The official journal of the Clinical Immunology Society >Tryptase haplotype in mastocytosis: relationship to disease variant and diagnostic utility of total tryptase levels.
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Tryptase haplotype in mastocytosis: relationship to disease variant and diagnostic utility of total tryptase levels.

机译：肥大细胞增多症中的类胰蛋白酶单倍型：与总类胰蛋白酶水平的疾病变异和诊断效用的关系。

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摘要

Serum mast cell tryptase levels are used as a diagnostic criterion and surrogate marker of disease severity in mastocytosis. Approximately 29% of the healthy population lacks alpha tryptase genes; however, it is not known whether lack of alpha tryptase genes leads to variability in tryptase levels or impacts on disease severity in mastocytosis. We have thus analyzed tryptase haplotype in patients with mastocytosis, computing correlations between haplotype and plasma total and mature tryptase levels; and disease category. We found: (1) the distribution of tryptase haplotype in patients with mastocytosis appeared consistent with Hardy-Weinberg equilibrium and the distribution in the general population; (2) the disease severity and plasma tryptase levels were not affected by the number of alpha or beta tryptase alleles in this study; and (3) information about the tryptase haplotype did not provide any prognostic value about the severity of disease. Total and mature tryptase levels positively correlated with disease severity, as well as prothrombin time and partial thromboplastin time, and negatively correlated with the hemoglobin concentration.
机译：血清肥大细胞类胰蛋白酶水平被用作诊断标准和肥大细胞增多症疾病严重程度的替代指标。大约29％的健康人群缺乏α类胰蛋白酶基因;然而，尚不清楚缺乏α-类胰蛋白酶基因是否会导致类胰蛋白酶水平变化或对肥大细胞增多症的疾病严重性产生影响。因此，我们分析了肥大细胞增多症患者的类胰蛋白酶单倍型，计算了单倍型与血浆总和成熟类胰蛋白酶水平之间的相关性;和疾病类别。我们发现：（1）肥大细胞增多症患者中类胰蛋白酶的单倍型分布似乎与Hardy-Weinberg平衡及一般人群中的分布一致; （2）在这项研究中，疾病严重程度和血浆类胰蛋白酶水平不受α或β类胰蛋白酶等位基因数目的影响; （3）有关类胰蛋白酶单倍型的信息未提供有关疾病严重程度的任何预后价值。总的和成熟的类胰蛋白酶水平与疾病的严重程度，凝血酶原时间和部分凝血活酶时间呈正相关，与血红蛋白浓度呈负相关。

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