Snp Genotyping Of Cacna1a Gene Implicated In Childhood Absence Epilepsy (Cae) (Record no. 13150)

000 -LEADER
fixed length control field 03077nam a22002057a 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20170726082925.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 170726b2016 xxu||||| |||| 00| 0 eng d
041 ## - LANGUAGE CODE
Language code of text/sound track or separate title eng
082 ## - DEWEY DECIMAL CLASSIFICATION NUMBER
Classification number 2746-T
100 ## - MAIN ENTRY--AUTHOR NAME
Personal name Wajeeha Tariq (2010-VA-487)
110 ## - MAIN ENTRY--CORPORATE NAME
Location of meeting Dr. Muhammad Wasim
245 ## - TITLE STATEMENT
Title Snp Genotyping Of Cacna1a Gene Implicated In Childhood Absence Epilepsy (Cae)
260 ## - PUBLICATION, DISTRIBUTION, ETC. (IMPRINT)
Year of publication 2016.
300 ## - PHYSICAL DESCRIPTION
Number of Pages 102p.;
502 ## - DISSERTATION NOTE
Dissertation note Childhood absence epilepsy (CAE) is more pediatric epileptic syndrome. It is about 5 to 15% of all childhood epilepsies. CAE is polygenic and multifactorial syndrome. Many different genes other than CACNA1A gene are involved to cause the CAE collectively. Mutation in P/Q type alpha 1 A subunit channel (Cav2.1) gene CACNA1A, leading to the reduction of Cav2.1 activity in both neurons and in expression system. Reduction in Cav2.1 channel activity altered the neurotransmitter release at neocortical synapses. Molecular genetics techniques have identified various mutation in the genes of ion channels such (CACNA1A, CACNA1G, CACNA1H, CACNB4), sodium channel genes (SCN1A, SCN1B and SCN2A) and GABA receptor genes (GABRD and GABRG2). CACNA1A ion channels are the standard mediator of neurotransmission in Central nervous system (CNS) and mutations in this gene play significant role in the generation of absence seizures. Pore forming alpha 1 a (Cav2.1) channels encoded by CACNA1A gene and are usually located in presynaptic neuron.
Present study was aimed to examine coding regions of CACNA1A gene for analyzing the mutations involve in epilepsy.
Blood samples (n = 40) of true CAE representatives were collected from Children hospital Lahore. DNA was isolated from all blood samples through standard organic method. Amplification of CACNA1A gene exon 36 regions was done with specially designed primers.
Later on, results were analyzed through sequencing of target region. Sequenced samples were analyzed through BioEdit software and alignment was done through Clustal Omega software.
It has been identified that absence epileptic patients of Pakistan showed Mutation in exon 36 of CACNA1A gene at position 281258bp and 281285bp which alter the protein sequence. Due to frame shift mutation a stop codon was detected at position 1813 in protein sequence. So a truncated and loss of function Cav2.1 channel might be formed. In epileptic patients, mutation is responsible for the absence seizures.
In the conclusion, we can say that additional study with large number sample is required to amend the effects of these mutations and their associated factors are precisely and perfectly identified. Further, there is need to investigate the other gene variation causing epilepsy in the local population of Punjab Pakistan. This study will ultimately help to develop genetic counseling strategies, gene therapies and parental diagnostic procedures for the Pakistani population.
650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical Term Molecular biology & Biotechnology
700 ## - ADDED ENTRY--PERSONAL NAME
Personal name Dr. Ali Raza Awan
700 ## - ADDED ENTRY--PERSONAL NAME
Personal name Dr. Muhammad tayyab
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 2017-07-26 2746-T 2746-T Thesis


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