ABSTRACT
The kappa (CSN3) and beta-casein (CSN2) genes are intensively genotyped in dairy cattle for selection purposes. This information is also generated and disseminated for Zebu breeds adapted to tropical climates. The objective of this work was to gather information on the genotypes for the CSN3 and CSN2 genes in three breeds (Gyr, Guzerat and Sindhi), and to verify the genotypic frequencies in the populations. The genotype AA and allele A frequencies are high for the CSN3 gene, without changes in values over the years, possibly indicating a small gene participation in traits under selection. In addition, the A2A2 frequencies are high for the CSN2 gene (<â¼0.80). It is recommended to verify the association and contribution of CSN3 genotypes in productive traits for these breeds. The potential of A2 milk production by these genetic groups is also confirmed.
Subject(s)
Caseins , Milk , Cattle/genetics , Animals , Caseins/genetics , Alleles , Genotype , PhenotypeABSTRACT
BACKGROUND: The Mulvihill-Smith Syndrome was first recognized in 1975. After the recognition of the Mulvihill-Smith Syndrome, ten cases have been described. CASE PRESENTATION: This article describes the eleventh case of this syndrome in a male patient, 24 years-old with short stature and microcephaly with mild cognitive impairment, deafness and allergic conjunctivitis. The patient was hospitalized several times for repeated infections, and the presence of multiple melanocytic nevi on his skin was noticed. CONCLUSIONS: Based on the entire set of signs and symptoms presented in our study, it was diagnosed the patient with Mulvihill-Smith Syndrome.
