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首页> 外文期刊>Experimental Animals >Analyses of Beta-1 Syntrophin, Syndecan 2 and Gem GTPase as Candidates for Chicken Muscular Dystrophy
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Analyses of Beta-1 Syntrophin, Syndecan 2 and Gem GTPase as Candidates for Chicken Muscular Dystrophy

机译：Beta-1 Syntrophin，Syndecan 2和Gem GTPase作为鸡肌肉营养不良的候选者的分析

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Despite intensive studies of muscular dystrophy of chicken, the responsible gene has not yet been identified. Our recent studies mapped the genetic locus for abnormal muscle (AM) of chicken with muscular dystrophy to chromosome 2q using the Kobe University (KU) resource family, and revealed the chromosome region where the AM gene is located has conserved synteny to human chromosome 8q11-24.3, where the beta-1 syntrophin (SNTB1), syndecan 2 (SDC2) and Gem GTPase (GEM) genes are located. It is reasonable to assume those genes might be candidates for the AM gene. In this study, we cloned and sequenced the chicken SNTB1, SDC2 and GEM genes, and identified sequence polymorphisms between parents of the resource family. The polymorphisms were genotyped to place these genes on the chicken linkage map. The AM gene of chromosome 2q was mapped 130 cM from the distal end, and closely linked to calbindin 1 (CALB1). SNTB1 and SDC2 genes were mapped 88.5 cM distal and 27.6 cM distal from the AM gene, while the GEM gene was mapped 18.5 cM distal from the AM gene and 9.1 cM proximal from SDC2. Orthologues of SNTB1, SDC2 and GEM were syntenic to human chromosome 8q. SNTB1, SDC2 and GEM did not correspond to the AM gene locus, suggesting it is unlikely they are related to chicken muscular dystrophy. However, this result also suggests that the genes located in the proximal region of the CALB1 gene on human chromosome 8q are possible candidates for this disease.
机译：尽管对鸡的肌营养不良症进行了深入研究，但尚未鉴定出负责的基因。我们最近的研究使用神户大学（KU）资源家族将患有肌肉营养不良的鸡的异常肌肉（AM）的遗传基因座映射到2q染色体，并揭示了AM基因所在的染色体区域与人类8q11- 24.3，位于其中的beta-1 syntrophin（SNTB1），syndecan 2（SDC2）和Gem GTPase（GEM）基因。合理地假设那些基因可能是AM基因的候选基因。在这项研究中，我们克隆并测序了鸡的SNTB1，SDC2和GEM基因，并确定了资源家族父母之间的序列多态性。对多态性进行基因分型，以将这些基因置于鸡连锁图上。染色体2q的AM基因从远端定位130 cM，并与calbindin 1（CALB1）紧密相连。 SNTB1和SDC2基因位于AM基因远端88.5 cM和27.6 cM远端，而GEM基因位于AM基因远端18.5 cM和SDC2远端9.1 cM。 SNTB1，SDC2和GEM的直向同源物与人类8q染色体同源。 SNTB1，SDC2和GEM与AM基因位点不对应，表明它们不太可能与鸡肌肉营养不良有关。但是，该结果还表明位于人染色体8q上CALB1基因近端区域的基因可能是该疾病的候选基因。

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