Localization of the mouse nob (no b-wave) gene to the centromeric region of the X chromosome.
Localization of the mouse nob (no b-wave) gene to the centromeric region of the X chromosome.
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DOI：
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发表时间：
1999-10
影响因子：
4.4
通讯作者：
S. Candille;M. Pardue;M. McCall;N. Peachey;R. Gregg
中科院分区：
文献类型：
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作者：
S. Candille;M. Pardue;M. McCall;N. Peachey;R. Gregg
目的确定小鼠自发突变nob（无b波）基因在X染色体上的位置，该突变与人类1型完全性X连锁先天性静止性夜盲（CSNB）表型相匹配。方法产生种间和种内谱系，并根据视网膜电图b波的存在或不存在对每只小鼠的表型进行评分。从每只小鼠的尾部活检组织中分离DNA，并用于确定X染色体上各种多态性标记的基因型。计算nob表型和每个标记之间的LOD得分（Z）以确定nob基因的最可能位置。结果共分析了174例信息丰富的子代。nob基因与DXMit103紧密连锁，重组分数为零时最大LOD得分为25.9。该标记位于小鼠图谱的X染色体上的4.2 cM处。在该地区的几个重组染色体的单倍型分析表明，nob基因的DXMit54（3.8 cM）和Ube1x（5.7 cM）之间的地图。结论小鼠nob基因的遗传位置与人的同源区域重叠，该区域包含CSNB1位点，但不包括CSNB2区域。进一步的研究计划确定小鼠nob基因，并将其作为CSNB1的候选基因进行评估。
PURPOSE To determine the position on the X chromosome of the gene responsible for a spontaneous mouse mutation, nob (no b-wave), which matches the phenotype of complete X-linked congenital stationary night blindness (CSNB) type 1 in human. METHODS Inter- and intraspecific pedigrees were generated, and the phenotype of each mouse was scored on the basis of either the presence or the absence of an electroretinographic b-wave. DNA was isolated from a tail biopsy from each mouse and was used to determine the genotype at various polymorphic markers on the X chromosome. LOD scores (Z) between the nob phenotype and each marker were calculated to determine the most probable location of the nob gene. RESULTS A total of 174 informative offspring were analyzed. The nob gene is tightly linked to DXMit103 with a maximum LOD score of 25.9 at a recombination fraction of zero. This marker is located at 4.2 cM on the X chromosome of the mouse map. Haplotype analyses of several recombinant chromosomes in the region indicates that the nob gene maps between DXMit54 (3.8 cM) and Ube1x (5.7 cM). CONCLUSIONS The genetic position of the mouse nob gene overlaps the homologous region in human that contains the locus for CSNB1 and excludes the region of CSNB2. Further studies are planned to identify the mouse nob gene and to evaluate it as a candidate for CSNB1.