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牛白细胞黏附缺陷症(BLAD)中CD18基因突变的检测。

The detection of a mutation of CD18 gene in bovine leukocyte adhesion deficiency (BLAD).

作者信息

Tajima M, Irie M, Kirisawa R, Hagiwara K, Kurosawa T, Takahashi K

机构信息

Department of Veterinary internal Medicine, Rakuno Gakuen University, Hokkaido, Japan.

出版信息

J Vet Med Sci. 1993 Feb;55(1):145-6. doi: 10.1292/jvms.55.145.

Abstract

Two calves (5 and 9 months old) affected with pneumonia and gingivitis were also diagnosed as having bovine leukocyte adhesion deficiency (BLAD). The gene of leukocyte adhesion molecule CD18 in these BLAD calves and their dams (carrier) were examined by means of polymerase chain reaction (PCR) and digestion of restriction endonuclease. The splicing in mRNA coded CD18 reported in human LAD was not recognized in BLAD on the basis of the results of PCR amplification. The region including the portion of point mutation, which corresponded to the region reported in the human patient, was amplified by PCR, and the PCR product was then digested with Taql. An obvious difference was recognized in the pattern of digestion among healthy calves, BLAD calves and their dams. In BLAD, therefore, the point mutation reported in human patients was strongly suggested. Moreover it may be a method able to be used in detecting the carrier.

摘要

两头患有肺炎和牙龈炎的小牛(分别为5个月和9个月大)也被诊断出患有牛白细胞粘附缺陷症(BLAD)。通过聚合酶链反应(PCR)和限制性内切酶消化的方法,检测了这些BLAD小牛及其母畜(携带者)中白细胞粘附分子CD18的基因。根据PCR扩增结果,在BLAD中未发现人类白细胞粘附缺陷症(LAD)中报道的编码CD18的mRNA剪接情况。通过PCR扩增出包含与人类患者报道区域相对应的点突变部分的区域,然后用TaqI对PCR产物进行消化。在健康小牛、BLAD小牛及其母畜之间,消化模式存在明显差异。因此,在BLAD中,强烈提示存在人类患者中报道的点突变。此外,这可能是一种可用于检测携带者的方法。

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