A novel missense mutation responsible for factor VII deficiency in research Beagle colonies
A novel missense mutation responsible for factor VII deficiency in research Beagle colonies
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DOI：
10.1111/j.1538-7836.2006.02203.x
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发表时间：
2006-12-01
影响因子：
10.4
通讯作者：
High, K. A.
中科院分区：
文献类型：
--
作者：
Callan, M. B.;Aljamali, M. N.;High, K. A.
背景：犬因子VII （cFVII）缺乏是一种常染色体隐性性状，最初在研究比格犬中发现，与轻度至中度出血倾向有关。目的：我们的目的是鉴定和表征导致cFVII缺乏的突变。方法：克隆cFVII基因cDNA，对cFVII基因编码区进行测序。利用来自fvii缺陷比格犬和专性携带者的基因组DNA和血浆。结果：在所有FVII缺陷的狗中，我们在编码第二表皮生长因子样结构域的第5外显子中发现了一个单一的G到a错义突变，导致甘氨酸96被谷氨酸取代，血浆FVII凝血活性为
Background: Canine factor VII (cFVII) deficiency, an autosomal recessive trait originally identified in research Beagles, is associated with a mild to moderate bleeding tendency. Objective: Our aim was to identify and characterize the mutation causing cFVII deficiency. Methods: In order to sequence the coding regions of the cFVII gene, we cloned the cFVII cDNA. Genomic DNA and plasma from FVII-deficient Beagles and obligate carriers were utilized. Results: In all FVII-deficient dogs, we identified a single causative G to A missense mutation in exon 5, encoding the second epidermal growth factor-like domain, resulting in substitution of glycine 96 by glutamic acid, with plasma FVII coagulant activity of