In this study we estimated the allele and genotype frequencies of SCD1 and DGAT1 gene polymorphism. The analysis was conducted on 408 Holstein cows from five dairy herds in Isfahan province. Genotypes were identified using PCR-RFLP technique. Two genetic variants (A and V) of the SCD1 gene were observed in this experiment. The frequency of A-allele ranged from 0.49 to 0.66, while frequency of V...

In this study we estimated the allele and genotype frequencies of SCD1 and DGAT1 gene polymorphism. The analysis was conducted on 408 Holstein cows from five dairy herds in Isfahan province. Genotypes were identified using PCR-RFLP technique. Two genetic variants (A and V) of the SCD1 gene were observed in this experiment. The frequency of A-allele ranged from 0.49 to 0.66, while frequency of V...

The nature and pace of genome mutation is largely unknown. Standard methods to investigate DNA-mutation rely on arraying or sequencing DNA from a population of cells, hence the genetic composition of individual cells is lost and de novo mutation in cell(s) is concealed within the bulk signal. We developed methods based on (SNP-) arraying and next-generation sequencing of single-cell whole-genom...

Background: GAI and MPSIIIB are two rare genetic disorders caused by pathogenic variants in two different genes. Here, we report a coexistence of these two different rare disorders in an individual. Methods: A four-year-old Iranian boy born to first-cousin parents suspected to have MPSIIIB and/or GAI was investigated in this study. Targeted genomic enrichment and NGS were used to examine genes ...