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犬类岩藻糖苷贮积症:一项生物化学与遗传学研究。

Canine fucosidosis: a biochemical and genetic investigation.

作者信息

Healy P J, Farrow B R, Nicholas F W, Hedberg K, Ratcliffe R

出版信息

Res Vet Sci. 1984 May;36(3):354-9.

PMID:6463379
Abstract

Plasma and leucocytes from six springer spaniels with clinical signs of fucosidosis had low activities of alpha-L-fucosidase. Fucosidase activities in plasma and leucocytes from parents of springers with fucosidosis were approximately half those in non-springer dogs. Examination of pedigree information in relation to classifications based upon plasma and leucocyte assays provided convincing evidence that fucosidosis is inherited in an autosomal recessive manner and that it is possible to detect heterozygotes using plasma and leucocyte assays.

摘要

六只患有岩藻糖苷贮积症临床症状的激飞猎犬的血浆和白细胞中,α-L-岩藻糖苷酶活性较低。患有岩藻糖苷贮积症的激飞猎犬的父母血浆和白细胞中的岩藻糖苷酶活性约为非激飞猎犬的一半。根据血浆和白细胞检测结果对系谱信息进行的检查提供了令人信服的证据,表明岩藻糖苷贮积症是以常染色体隐性方式遗传的,并且可以使用血浆和白细胞检测来检测杂合子。

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