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雄激素受体基因第 1 外显子中的 CAG 串联重复序列的变异性与犬两性畸形无关。

Variability of CAG tandem repeats in exon 1 of the androgen receptor gene is not related with dog intersexuality.

机构信息

Department of Genetics and Animal Breeding, Poznan University of Life Sciences, Poland.

出版信息

Anim Reprod Sci. 2010 Feb;117(3-4):308-13. doi: 10.1016/j.anireprosci.2009.05.001. Epub 2009 May 9.

Abstract

Numerous mutations of the human androgen receptor (AR) gene cause an intersexual phenotype, called the androgen insensitivity syndrome. The intersexual phenotype is also quite often diagnosed in dogs. The aim of this study was to conduct a comparative analysis of the entire coding sequence (eight exons) of the AR gene in healthy and four intersex dogs, as well as in three other canids (the red fox, arctic fox and Chinese raccoon dog). The coding sequence of the studied species appeared to be conserved (similarity above 97%) and polymorphism was found in exon 1 only. Altogether, 2 SNPs were identified in healthy dogs, 14 in red foxes, 16 in arctic foxes and 6 were found in Chinese raccoon dogs, respectively. Moreover, a variable number of tandem repeats (CAG and CAA), encoding an array of glutamines, was also observed in this exon. The CAA codon numbers were invariable within species, but the CAG repeats were polymorphic. The highest number of the CAG and CAA repeats was found in dogs (from 40 to 42) and the observed variability was similar in intersex and healthy dogs. In the other canids the variability fell within the following ranges: 29-37 (red fox), 37-39 (arctic fox) and 29-32 (Chinese raccoon dog). In addition, a polymorphic microsatellite marker in intron 2 was found in the dog, red fox and Chinese raccoon dog. It was concluded that the polymorphism level of the AR gene in the dog was lower than in the other canids and none of the detected polymorphisms, including variability of the CAG tandem repeats, could be related with the intersexual phenotype of the studied dogs.

摘要

人类雄激素受体 (AR) 基因的许多突变导致一种称为雄激素不敏感综合征的两性畸形表型。这种两性畸形表型在犬中也经常被诊断出来。本研究的目的是对健康犬和 4 只两性畸形犬以及 3 种其他犬科动物(红狐、北极狐和中国貉)的 AR 基因全长编码序列(8 个外显子)进行比较分析。研究物种的编码序列似乎是保守的(相似度高于 97%),仅在外显子 1 中发现了多态性。总共在健康犬中发现了 2 个 SNP,在红狐中发现了 14 个,在北极狐中发现了 16 个,在中国貉中发现了 6 个。此外,还在外显子 1 中观察到了一个可变数目的串联重复(CAG 和 CAA),编码一系列谷氨酰胺。在同一物种内,CAA 密码子数量是不变的,但 CAG 重复是多态的。CAG 和 CAA 重复的数量在犬中最高(40-42),观察到的变异性在两性畸形和健康犬中相似。在其他犬科动物中,变异性在以下范围内:29-37(红狐)、37-39(北极狐)和 29-32(中国貉)。此外,在犬、红狐和中国貉中发现了一个位于内含子 2 的多态性微卫星标记。结论是,犬 AR 基因的多态性水平低于其他犬科动物,包括 CAG 串联重复的变异性,与研究犬的两性畸形表型无关。

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