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小鼠2型神经纤维瘤病基因定位于11号染色体。

The mouse neurofibromatosis type 2 gene maps to chromosome 11.

作者信息

Claudio J O, Malo D, Rouleau G A

机构信息

Center for Research in Neuroscience, McGill University, Montreal, Canada.

出版信息

Genomics. 1994 May 15;21(2):437-9. doi: 10.1006/geno.1994.1291.

Abstract

Neurofibromatosis type 2 (NF2) is a dominantly inherited disease characterized by the development of bilateral vestibular schwannomas and meningiomas, which together represent 30% of primary brain tumors. The NF2 gene, which has recently been isolated, maps to the long arm of human chromosome 22. Using recombinant inbred mice, we have determined the chromosomal position of the mouse homologue of the NF2 gene. Analysis of the allele distribution in AKXD recombinant inbred strains using a simple sequence repeat polymorphism (D11Mcg1) in the 3' untranslated region of the mouse cDNA maps the mouse NF2 gene to the proximal region of chromosome 11, closely linked to Pmv-2. This region also contains the genes for leukemia inhibitory factor and neurofilament heavy-chain polypeptide and thus represents a region of conserved synteny between human chromosome 22 and mouse chromosome 11. Using additional polymorphic markers, we established the following locus order from the centromere: D11Mit1/D11Mit72/D11Mcg1-D11Mit74-Pmv-2-D11Mi t2-D11Mit77/D11Mit78/D11Mit63.

摘要

2型神经纤维瘤病(NF2)是一种常染色体显性遗传病,其特征是双侧前庭神经鞘瘤和脑膜瘤的发生,这两种肿瘤占原发性脑肿瘤的30%。最近分离出的NF2基因定位于人类22号染色体长臂。利用重组近交系小鼠,我们确定了NF2基因小鼠同源物的染色体位置。使用小鼠cDNA 3'非翻译区的简单序列重复多态性(D11Mcg1)分析AKXD重组近交系中的等位基因分布,将小鼠NF2基因定位于11号染色体近端区域,与Pmv-2紧密连锁。该区域还包含白血病抑制因子和神经丝重链多肽的基因,因此代表了人类22号染色体和小鼠11号染色体之间的保守同线性区域。使用其他多态性标记,我们从着丝粒建立了以下基因座顺序:D11Mit1/D11Mit72/D11Mcg1-D11Mit74-Pmv-2-D11Mit2-D11Mit77/D11Mit78/D11Mit63。

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