Mutation Screen Of "Gamma-Aminobutyric Acid (Gaba)-A Receptor, Gamma 2" In Punjab Population (Record no. 3204)

000 -LEADER
fixed length control field 01964nam a2200193Ia 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20151006131339.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 150525s2012xx 000 0 und d
041 ## - LANGUAGE CODE
Language code of text/sound track or separate title eng
082 ## - DEWEY DECIMAL CLASSIFICATION NUMBER
Classification number 1500,T
100 ## - MAIN ENTRY--AUTHOR NAME
Personal name Muhammad Javed Iqbal
110 ## - MAIN ENTRY--CORPORATE NAME
Location of meeting Dr. Muhammad Wasim
245 ## - TITLE STATEMENT
Title Mutation Screen Of "Gamma-Aminobutyric Acid (Gaba)-A Receptor, Gamma 2" In Punjab Population
260 ## - PUBLICATION, DISTRIBUTION, ETC. (IMPRINT)
Year of publication 2012
502 ## - DISSERTATION NOTE
Dissertation note Epilepsy is a formidable form of neural disorder that can impose its long lasting effect on person's life and development. To date, it lacks any effective therapy and is multistep disease strengthened by an overwhelming number of genetic and epigenetic mechanisms that streamline epileptic attacks. This particular study encompasses two major types of epilepsy, CAE and GTCS by targeting a GABRG2 gene. Mutation analysis of the coding exons (exon 3, 5 and 9) was performed by direct sequencing of GABRG2 in order to sought out complex biological entities in both types of epilepsies. GABRG2 is a molecule that has recently been characterized as the culprit for epileptic seizures onset. GABRG2 encodes GABA receptor that is fundamental inhibitory neurotransmitter in mammalian brain and is a ligand-gated chloride channels. This ligand-receptor coupling results in the inward shuttling of chloride ions through the channels and this hyperpolarizes the neurons, which induce the inhibitory effect of neurotransmitters. Direct sequencing of candidate gene "GABRG2" traced out a single polymorphic site in the exon 3 of the CAE as well as GTCS cases. However, this single nucleotide alteration is more commonly identified in childhood absence epilepsy patients as compared to the generalized cases. Silent mutation was identified at locus 27909 C>T of 46.66% of the total screened or analyzed cases.
650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical Term Institute of Biochemistry & Biotechnology
700 ## - ADDED ENTRY--PERSONAL NAME
Personal name Dr. Abu Saeed
700 ## - ADDED ENTRY--PERSONAL NAME
Personal name Dr. Ali Raza Awan
942 ## - ADDED ENTRY ELEMENTS (KOHA)
Koha item type Thesis
Holdings
Damaged status Collection code Permanent Location Current Location Shelving location Date acquired Full call number Accession Number Koha item type
  Veterinary Science UVAS Library UVAS Library Thesis Section 2015-05-29 1500,T 1500,T Thesis


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