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Cytogenet Genome Res ; 120(1-2): 140-3, 2008.
Article in English | MEDLINE | ID: mdl-18467838

ABSTRACT

The aim of this study was to estimate prognostic factors in a Dalmatian dog with bilateral cryptorchidism and hypospadias. Cytogenetic and molecular analyses revealed a normal karyotype (2n = 78,XY) and the presence of SRY, INSL3 and RXFP2 genes with a normal DNA sequence for SRY and RXFP2, while the INSL3 sequence differed slightly from the normal one due to a heterozygous nucleotide change involving amino acid 22 of the INSL3 dog precursor protein. Levels of plasmatic testosterone were only 0.01 ng/ml, while FSH and LH serum levels were not detectable. After the human chorionic gonadotropin (hCG) test, the serum testosterone level was 0.01 ng/ml. Therefore, the phenotypic aetiology of this subject can not be well-defined because cryptorchidism and hypospadias were frequent clinical features with high genetic heterogeneity.


Subject(s)
Cryptorchidism/veterinary , Dog Diseases/genetics , Hypospadias/veterinary , Amino Acid Sequence , Amino Acid Substitution , Animals , Base Sequence , Cryptorchidism/genetics , Cryptorchidism/pathology , DNA Primers/genetics , Dog Diseases/pathology , Dogs , Genes, sry , Hypospadias/genetics , Hypospadias/pathology , Insulin/genetics , Karyotyping/veterinary , Male , Molecular Sequence Data , Phenotype , Point Mutation , Prognosis , Proteins/genetics , Receptors, G-Protein-Coupled/genetics , Sequence Homology, Amino Acid , Species Specificity
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