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Abstract The main aim of this work was genetic characterization of genetic diseases found in Arabian horses in Egypt such as LFS, CA and SCID. Also, detection of the genotype for the studied diseases of each individual and estimate the frequency of this diseases in the studied population. To perform this work, the study included the following techniques, PCR, RFLP, sequencing analysis, fragment analysis and multiplex PCR. Data collected in this study facilitated detection of genetic diseases and identify the recessive monogenic alteration if present in MYO5A gene, TOE1 gene and DNA-PKcs gene responsible for LFS, CA and SCID respectively in the Arabian horse population in Egypt. Horses appearing healthy may carry a lethal allele that causes a disorder in homozygous genotypes. hence, this pathological condition might transmit across the next generations and increase the frequency without attention. For LFS; the frequency detected was very high and it could be the highest among all Arabian horse populations around the world. Without testing the horses before serving in the breeding program and identify the genotype of each individual, the trials to eliminate the LFS mutant allele would be very hard. So, DNA test optimization for each assay was very important such as RFLP technique and fragment analysis as well as the sequencing assay. |