Year: 2014 | Month: July | Volume 7 | Special Issue
Molecular Genetic Analysis of TH and COMT Gene Polymorphism in Mentally Retarded Patients
Abstract:
Mental retardation is a variable and heterogeneous manifestation of central nervous system dysfunction characterized by significant sub average intellectual functioning.In India the incidence of mental retardation is reported to be 2-3% of these 30% cases of severe mental retardation are genetically determined due to many reasons viz- chromosomal aberrations, X linked and subtelometric abnormalities and mutations in genes associated with nervous system function viz- TH ,COMT, MTHFR, PPP1R1B, MECP2. Tyrosine hydroxylase (TH) gene is located on chromosome number 11 and is coding for rate limiting enzyme in the synthesis of dopamine. Changes in TH gene expression or function influence the process or behavior modulated by dopamine, any mutation in TH gene modulate dopamine and its function. Catechol-o-methyl transferase (COMT) gene is located on chromosome number 22 and plays an important role in the metabolism of neurotransmitters. Low levels of COMT expression leads to mental retardation.The present study was carried out to study polymorphism in TH and COMT and its possible association with mental retardation. The detection technique includes isolation of DNA from peripheral blood of the mentally retarded patients of Surat and Anand regions of Gujarat state. DNA was isolated by standard phenol: chloroform method. PCR-RFLP was used for detection of polymorphism. Analysis of TH and COMT gene polymorphism in mentally retarded patients revealed that most observed genotype in normal as well as in mentally retarded patients is TT and HH for TH and COMT loci respectively.
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