Mapping of mouse alpha 1(XIII) collagen to chromosome 10 and its exclusion as a kd candidate gene.
Mapping of mouse alpha 1(XIII) collagen to chromosome 10 and its exclusion as a kd candidate gene.
复制标题
小鼠 α 1(XIII) 胶原蛋白到 10 号染色体的定位及其作为 kd 候选基因的排除。
DOI：
10.1023/a:1002013218535
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发表时间：
2000
影响因子：
2.4
通讯作者：
Guay-Woodford,LM
中科院分区：
文献类型：
--
作者：
Mrug,M;Stockwin,J;Wüthrich,RP;Gasser,DL;Guay-Woodford,LM
肾脏疾病(Kd)突变在CBA/CAH近交系小鼠中自发发生，并已被证明是一种常染色体隐性遗传。这种突变纯合子的小鼠在5-7个月大时死于贫血(一种尿液浓缩缺陷)和尿毒症。此前已有研究表明，该突变位于10号染色体上，该区域与人类基因组中含有编码XIII型胶原α1链基因的区域同线。本工作根据鼠胶原XIIIα1(Col13a1)基因序列设计了一对聚合酶链式反应引物，从杂交组合中筛选出94个回交后代。鉴定出一种多态，并将该基因座的等位基因分离情况与BSS专家组中其他基因座的等位基因分离情况进行了比较。Col13a1基因被定位在第10染色体上，位于D10Bir8和D10Mit20标记之间。本文分析了CBA/CAH-kd/kd和Cast/Ei小鼠杂交F1中Col13a1位点的分离情况。结果排除了Col13a1作为受突变影响的基因座的候选基因。
The kidney disease (kd) mutation arose spontaneously in the CBA/CaH inbred mouse strain and has been shown previous to be inherited as an autosomal recessive trait. Mice homozygous for this mutation die at 5-7 months of age with inanition (a urinary concentrating defect) and uraemia. The mutation has been shown previously to map to chromosome 10, in a region syntenic to the region of the human genome containing the gene encoding the α1 chain of collagen XIII. In the present work, PCR primers based on the sequence of the mouse collagen XIII α1 (Col13a1) cDNA were used to screen 94 progeny of a (C57Bl/6J × SPRET/Ei) × SPRET/Ei backcross from the BSS backcross panel. A polymorphism was identified and the segregation of the alleles at this locus was compared with that of other loci in the BSS panel. TheCol13a1gene was mapped to chromosome 10 between theD10Bir8andD10Mit20markers. Segregation of theCol13a1locus in an F1intercross between CBA/CaH-kd/kdand CAST/Ei mice was analysed. The results excludedCol13a1as a candidate for the locus affected by thekdmutation.