Analisis Keragaman Nukleotida Ruas Ekson 4 Gen Branched Chain Ketoacid Dehydrogenase E1-α Polypeptide (BCKDHA) pada Sapi

Abstract

Branched Chain Ketoacid Dehydrogenase (BCKD) is the enzyme complex that have a role in changing branched chain amino acid (leusin, isoleusin, and valin) into α-keto which can involve in Crebs cycle. Deficiency of enzyme complex BCKD will cause Maple Syrup Urine Disease (MSUD). This research aimed to analyze the variability of exon 4 nucleotides of BCKDHA gene on cattle. Analysis of variants from BCKDHA gene was performed using 5 DNA samples from madura cattle, 3 DNA samples from sumba ongole (so) cattle, and 3 DNA samples from ongole descendant cattle and nucleotides sequencing was conducted on PCR product from amplification of DNA pooling sample method. The variant of the exon 4 was G36T on po cattle. This variant revealed transversion substitution which changed Glu (GAA) to stop codon (TAA). The other variant, G144C was found in intron 4 of madura and so cattle.