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人α-L-岩藻糖苷酶：一种血清酶活性低的常见多态性变体，血清和白细胞酶的研究

Human alpha-L-fucosidase: a common polymorphic variant for low serum enzyme activity, studies of serum and leukocyte enzyme.

作者信息

Wood S

出版信息

Hum Hered. 1979;29(4):226-9. doi: 10.1159/000153049.

DOI:10.1159/000153049
PMID:478557
Abstract

Serum alpha-L-fucosidase was assayed in 422 individuals. Extremely low levels of enzyme activity were found in 26 individuals. This variant enzyme has increased heat lability. The remaining samples exhibited a bimodal frequency distribution. Family studies suggest that the variant is inherited as a Mendelian recessive character. The variant leukocyte enzyme exhibits normal activity yet increased heat lability. Serum and leukocyte samples from individuals who do not possess the low activity variant are heterogeneous with respect to the heat lability of alpha-L-fucosidase. This common polymorphism may be useful for mapping purposes in family studies.

摘要

对422名个体的血清α-L-岩藻糖苷酶进行了检测。在26名个体中发现了极低水平的酶活性。这种变异酶的热稳定性增加。其余样本呈现双峰频率分布。家族研究表明，该变异以孟德尔隐性性状遗传。变异的白细胞酶表现出正常活性，但热稳定性增加。不具有低活性变异的个体的血清和白细胞样本在α-L-岩藻糖苷酶的热稳定性方面是异质的。这种常见的多态性可能有助于家族研究中的基因定位。

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引用本文的文献

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Specific activity of alpha-L-fucosidase in sera with phenotypes of either low, intermediate, or high total enzyme activity and in a fucosidosis serum.在总酶活性为低、中或高表型的血清以及岩藻糖苷贮积症血清中α-L-岩藻糖苷酶的比活性。
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Biosynthesis, processing, and extracellular release of alpha-L-fucosidase in lymphoid cell lines of different genetic origins.不同遗传起源的淋巴细胞系中α-L-岩藻糖苷酶的生物合成、加工及细胞外释放
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