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一项关于标准刚毛腊肠犬中与视锥-视杆营养不良相关的突变等位基因的群体研究。

A population study of a mutation allele associated with cone-rod dystrophy in the standard wire-haired dachshund.

作者信息

Wiik A C, Thoresen S I, Wade C, Lindblad-Toh K, Lingaas F

机构信息

Department of Basic Sciences and Aquatic Medicine, Division of Genetics, Norwegian School of Veterinary Science, PO Box 8146 Dep., 0033 Oslo, Norway.

出版信息

Anim Genet. 2009 Aug;40(4):572-4. doi: 10.1111/j.1365-2052.2009.01877.x. Epub 2009 Mar 20.

Abstract

Cone-rod dystrophy in the standard wire-haired dachshund (SWHD) is inherited as a simple autosomal recessive trait and the recently discovered mutation is widespread within the SWHD population in Norway and other Scandinavian countries. The gene frequency was estimated to be 4.8%. On the basis of the assumption that the size of the ancestral haplotype around a mutation is inversely correlated with the number of generations since the mutation arose, we have found that the mutation is of a relatively recent origin. The conserved haplotype was found to be 8 Mb in size and therefore we estimate that the mutation arose roughly eight generations (approximately 37 years) ago. This indicates that the mutation arose after breed separation.

摘要

标准刚毛腊肠犬(SWHD)的锥杆营养不良症以简单的常染色体隐性性状遗传,最近发现的突变在挪威和其他斯堪的纳维亚国家的SWHD种群中广泛存在。基因频率估计为4.8%。基于突变周围祖先单倍型大小与突变出现后的世代数呈负相关的假设,我们发现该突变起源相对较近。保守单倍型的大小为8 Mb,因此我们估计该突变大约在八代(约37年)前出现。这表明该突变在品种分化之后出现。

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