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      https://www.ias.ac.in/article/fulltext/jgen/100/0055

    • Keywords

       

      buffalo; deficiency of uridine monophosphate synthase; false positive; lethal; genetic disorder.

    • Abstract

       

      Deficiency of uridine monophosphate synthase (DUMPS) is a lethal genetic disorder associated with early embryonic mortality. Murrah and Mehsana male buffaloes (n = 594) were screened for DUMPS by PCR-RFLP technique. A few Murrah buffalo male calves were found to be carriers of DUMPS in RFLP, which has not been reported earlier. On the Sanger sequencing, a novel A to Gsubstitution mutation was identified in AvaI restriction recognition site of UMPS gene in buffaloes. This mutation hinders digestion of DNA by AvaI which leds to false positive results for DUMPS carrier in RFLP. The results indicated that genome sequencing must be performed before confirming results of RFLP in any new species. All the buffaloes that were tested had only wild-type genotype in exon 5 for DUMPSspecific allele.

    • Author Affiliations

       

      A. SUDHAKAR1 AMOL KHADE1 NILESH NAYEE1 R. V. CHANDRASEKHAR REDDY1 BRIJESH MAURYA1

      1. National Dairy Development Board, Anand 388 001, India
    • Dates

       
  • Journal of Genetics | News

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      Posted on July 25, 2019

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