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      https://www.ias.ac.in/article/fulltext/jgen/082/01-02/0017-0021

    • Keywords

       

      GABRA1 ; juvenile myoclonic epilepsy; DNA sequencing; Indian families

    • Abstract

       

      An Ala322Asp mutation in theGABRA1 gene was recently reported to be responsible for causing the autosomal dominant (AD) form of juvenile myoclonic epilepsy (JME) in a French-Canadian family. To study if JME families from India exhibiting the AD mode of inheritance carry the Ala322Asp mutation, we examined 35 unrelated JME-affected individuals from such families for the Ala322Asp mutation inGABRA1. Ala322Asp mutation was not observed in any of these JME-affected individuals, suggesting that this mutation is unlikely to be a predominant mutation involved in causation of epilepsy. To evaluate the possibility of other mutation(s) in and aroundGABRA1 that may predispose to JME, we compared the allele frequencies at two marker loci, D5S2118 and D5S422, flankingGABRA1, in probands and 100 matched population controls. One of the allele frequencies at D5S422 shows a significant difference between the cases and controls (χ2 = 11.44, d.f. = 1,P = 0.0007), suggesting genetic association between JME and genes located in the proximity of the DNA marker.

    • Author Affiliations

       

      A. Kapoor1 J. Vijai2 H. M. Ravishankar1 P. Satishchandra3 K. Radhakrishnan2 A. Anand1

      1. Molecular Biology and Genetics Unit, Jawaharlal Nehru Centre for Advanced Scientific Research, Jakkur, Bangalore - 560 064, India
      2. Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram - 695 011, India
      3. Department of Neurology, National Institute of Mental Health and Neurosciences, Hosur Road, Bangalore - 560 029, India
    • Dates

       
  • Journal of Genetics | News

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