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中国沙皮犬钴胺素缺乏症的关联研究。

Association study of cobalamin deficiency in the Chinese Shar Pei.

机构信息

Gastrointestinal Laboratory, Department of Small Animal Clinical Sciences, College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX 77843-4474, USA.

出版信息

J Hered. 2010 Mar-Apr;101(2):211-7. doi: 10.1093/jhered/esp100. Epub 2009 Nov 19.

DOI:10.1093/jhered/esp100
PMID:19926684
Abstract

Cobalamin deficiency is a common disorder in Chinese Shar Peis (Shar Peis) and is thus suspected to be hereditary. The objective of this study was to identify a genomic region or locus that cosegregates with the phenotype of cobalamin deficiency in Shar Peis. Serum cobalamin concentrations were measured, and blood for genomic DNA extraction was collected from 14 cobalamin-deficient Shar Peis and 28 Shar Peis with a serum cobalamin concentration in the reference range. The 327 microsatellite markers from the canine minimal screening set 2 and 4 additional markers were amplified by polymerase chain reaction and genotyped by automated capillary electrophoresis. Two microsatellite markers, DTR13.6 (P = 1.4 x 10(-6)) and REN13N11 (P = 1.5 x 10(-5)), both on canine chromosome 13, showed evidence of linkage disequilibrium. These findings indicate that the region of chromosome 13 near these markers should be mapped and closely examined for potential mutations associated with this disease in Shar Peis.

摘要

钴胺素缺乏症是中国沙皮犬(沙皮犬)的一种常见疾病,因此怀疑该病具有遗传性。本研究的目的是确定与沙皮犬钴胺素缺乏症表型共分离的基因组区域或基因座。测量了血清钴胺素浓度,并从 14 只钴胺素缺乏的沙皮犬和 28 只血清钴胺素浓度在参考范围内的沙皮犬中采集了用于基因组 DNA 提取的血液。通过聚合酶链反应扩增了来自犬最小筛选集 2 的 327 个微卫星标记和另外 4 个标记,并通过自动毛细管电泳进行了基因分型。两个微卫星标记,DTR13.6(P = 1.4 x 10(-6)) 和 REN13N11(P = 1.5 x 10(-5)),均位于犬 13 号染色体上,显示出连锁不平衡的证据。这些发现表明,应该对这些标记附近的 13 号染色体区域进行映射,并对与沙皮犬这种疾病相关的潜在突变进行仔细检查。

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Association study of cobalamin deficiency in the Chinese Shar Pei.中国沙皮犬钴胺素缺乏症的关联研究。
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