منابع مشابه
The Impact of the Mutation Causing Overo Lethal White Syndrome on White Patterning in Horses
The mutation responsible for Overo Lethal White Syndrome usually results in frame overo white patterning in carriers. In 10–20% of carriers, this phenotype is unapparent due to suppression by other color genes or because of fusion with additional white patterning genes. To be certain of genotype in individuals, allele-specific PCR analysis must be performed. Breeders can use the genotype inform...
متن کاملSkin malformations in a neonatal foal tested homozygous positive for Warmblood Fragile Foal Syndrome
BACKGROUND Skin malformations that resembled manifestations of Ehlers-Danlos-Syndrome were described in a variety of domestic animals during the last century as cutis hyperelastica, hyperelastosis cutis, dermatosparaxis, dermal/collagen dysplasia, dermal/cutaneous asthenia or Ehlers-Danlos-like syndrome/s. In 2007, the mutation responsible for Hereditary Equine Regional Dermal Asthenia (HERDA) ...
متن کاملFoal immunodeficiency syndrome: carrier testing has markedly reduced disease incidence.
Foal immunodeficiency syndrome (FIS), a fatal autosomal recessive disease found in three breeds of horses, was first reported (in the Fell pony) in 1996, and it soon became apparent that significant numbers of syndrome foals were being born each year. In each FIS case, the foals are clinically normal at birth, but start to weaken at 2–8 weeks (Scholes and others 1998) as they develop profound a...
متن کاملDual-color high-resolution fiber-FISH analysis on lethal white syndrome carriers in sheep.
Molecular defects occurring in the endothelin receptor type-B (EDNRB) gene are known to be associated with pigmentary anomalies and intestinal aganglionosis in humans, rodents and horses. We carried out a cytogenetic investigation in 2 ewes heterozygous for the deletion of the EDNRB gene and in 2 more females as control. The RBA-banding showed that all 4 ewes were karyologically normal. EDNRB g...
متن کاملThe Case of Recurrent Lethal Fetal Syndrome: Meckel–Gruber Syndrome
Meckel–Gruber syndrome (MGS), a rare lethal syndrome, is characterized phenotypically by polycystic kidneys, occipital encephalocele, and postaxial polydactyly. This entity with 100% fatality has autosomal recessive transmission with multiple gene loci. Mutation analysis is the confirmatory test to label a case as MGS. However, two of the three above-mentioned anomalies are sufficient to arrive...
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ژورنال
عنوان ژورنال: Pferdeheilkunde Equine Medicine
سال: 1994
ISSN: 0177-7726
DOI: 10.21836/pem19940504