Jurka Piotr, Sacharczuk Mariusz, Kawka Magdalena, Sobczak-Filipiak Malgorzata, Golicz Michal
1Department of Small Animal Diseases with Clinic, Faculty of Veterinary Medicine, Warsaw, Poland.
J Feline Med Surg. 2014 Feb;16(2):180-2. doi: 10.1177/1098612X13496247. Epub 2013 Jul 1.
A case of a stillborn Norwegian Forest kitten characterised in the course of anatomopathological and genetic examination is reported. The hydatidiform mole was diagnosed by delayed development, low birth weight of the kitten and abnormal placental development. Anatomopathological diagnosis was confirmed in genetic tests based on the amplification of highly heterozygous microsatellite sequences located on the X (FCA311) and autosomal chromosomes (FCA506, FCA532 and FCA178), as well as the sex-specific Sry and amelogenin (Amel) genes. The presence of two microsatellite alleles of paternal origin and one allele of maternal origin was observed in all analysed tissues (kidney, liver, brain, heart and spleen) of the stillborn kitten. The kitten's sex was diagnosed by the presence of the paternal Sry gene, and maternal and paternal products of Amel, as well as one maternal and one paternal X chromosome FCA311 microsatellite allele. The results thus confirmed that the haploid egg was fertilised by two sperm, yielding a triploid karyotype. In summary, the successful application of genetic markers in postnatal diagnosis of this condition in the cat confirms considerable usefulness of these techniques, especially in cases where cytogenetic diagnosis is insufficient or impossible.
报道了一例挪威森林猫死产病例,该病例在解剖病理学和基因检查过程中得到了特征描述。通过小猫发育延迟、低出生体重和胎盘发育异常诊断出葡萄胎。基于位于X染色体(FCA311)和常染色体(FCA506、FCA532和FCA178)上的高度杂合微卫星序列以及性别特异性的Sry和牙釉蛋白(Amel)基因的扩增,在基因检测中证实了解剖病理学诊断。在死产小猫的所有分析组织(肾脏、肝脏、大脑、心脏和脾脏)中均观察到两个父源微卫星等位基因和一个母源等位基因。通过父源Sry基因、母源和父源Amel产物以及一个母源和一个父源X染色体FCA311微卫星等位基因的存在诊断出小猫的性别。结果因此证实单倍体卵子由两个精子受精,产生了三倍体核型。总之,基因标记在猫这种情况的产后诊断中的成功应用证实了这些技术具有相当大的实用性,特别是在细胞遗传学诊断不足或无法进行的情况下。