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两名B型血友病患者中mcf.2转化基因的缺体缺失

Nullisomic deletion of the mcf.2 transforming gene in two haemophilia B patients.

作者信息

Anson D S, Blake D J, Winship P R, Birnbaum D, Brownlee G G

机构信息

Sir William Dunn School of Pathology, University of Oxford, UK.

出版信息

EMBO J. 1988 Sep;7(9):2795-9. doi: 10.1002/j.1460-2075.1988.tb03134.x.

Abstract

The mcf.2 transforming gene sequence has been located to the region between 29 and 61 kb 3' of the factor IX gene. Two unrelated haemophilia B patients who raise antibodies to infused factor IX ('inhibitors') have deletions in excess of 273 kb encompassing the factor IX and mcf.2 genes and a CG-rich island. We believe these patients show the first nullisomic deletion of a transforming gene to be reported. No clinical condition can be attributed to the loss of the mcf.2 gene.

摘要

mcf.2转化基因序列已定位到因子IX基因3'端29至61 kb之间的区域。两名对输入的因子IX产生抗体(“抑制剂”)的非亲缘关系的B型血友病患者,其缺失超过273 kb,涵盖因子IX和mcf.2基因以及一个富含CG的岛。我们认为这些患者表现出了首例被报道的转化基因的零体缺失。mcf.2基因的缺失未引发任何临床症状。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bc91/457070/3ad51343ceb5/emboj00146-0165-a.jpg

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