Mutation Detection Of Cacnb4 Gene Involved In Childhood Absence Epilepsy And Its Comparative Genomics In Mice
By: Ayesha Amin (2015-VA-1048)
| Dr. Muhammad Wasim.
Contributor(s): Dr. Sehrish Firyal | Prof. Dr. Aftab Ahmad Anjum.
Material type: 
BookPublisher: 2017Description: 61p.Subject(s): Molecular Biology and BiotechnologyDDC classification: 2924-T Dissertation note: Childhood absence epilepsy (CAE) is due to multiple factors affecting almost 9-12 years children. Depolarization of ion channel activates the channel. CACNB4 gene is affected by epileptic seizures. Disturbance in ion channel can affects different genes as CACNA1G, CACNA1H, CACNA1A, SCN1B, SCN1A,SCN2A and GABA receptor genes. CACNB4 gene has a major role in influencing epilepsy in human.
In present study,it is directed to analyze the mutations in epilepsy present in coding region of CACNB4 gene.
Collection of blood samples were from Children Hospital, Lahore, Punjab Pakistan from CAE patients of epilepsy. By using standard DNA extraction method, DNA was extracted from samples. Primers were designed for the amplification of exon 3 and 13 of CACNB4 gene.
Results were examined after sequencing the samples. BioEdit software was used to study the samples thoroughly. NCBI BLAST was used to align the sequences.
It is investigated that the sequences of CAE patients of epilepsy of CACNB4 gene has mutation at position position 258023bp which changes A>G. In protein sequence, the mutation is at position 413 which changes L (Leucine) to L (Leucine). This mutation has no effect because this is a synonymous mutationwhere the codon CUG is changes to CUA, both codes for same amino acid that is leucine, so no effect at all by this change in exon 13.
Three mutations are present in the intronic region of exon 13 first, second and third at positions 258184bp A deleted, 258289bp and 258191bp of CACNB4 gene respectively. These all mutations are present in intronic region so has no effect in phenotypes of individual.
In conclusion, maximum numbers of samples were needed to observe the effect of mutations and factors that causes epilepsy. This study will now help the researchers to investigate genetic therapies, strategies of genetic counseling and parental diagnosis for the population of Pakistan.
| Item type | Current location | Collection | Call number | Status | Date due | Barcode | Item holds |
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Thesis
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UVAS Library Thesis Section | Veterinary Science | 2924-T (Browse shelf) | Available | 2924-T |
Childhood absence epilepsy (CAE) is due to multiple factors affecting almost 9-12 years children. Depolarization of ion channel activates the channel. CACNB4 gene is affected by epileptic seizures. Disturbance in ion channel can affects different genes as CACNA1G, CACNA1H, CACNA1A, SCN1B, SCN1A,SCN2A and GABA receptor genes. CACNB4 gene has a major role in influencing epilepsy in human.
In present study,it is directed to analyze the mutations in epilepsy present in coding region of CACNB4 gene.
Collection of blood samples were from Children Hospital, Lahore, Punjab Pakistan from CAE patients of epilepsy. By using standard DNA extraction method, DNA was extracted from samples. Primers were designed for the amplification of exon 3 and 13 of CACNB4 gene.
Results were examined after sequencing the samples. BioEdit software was used to study the samples thoroughly. NCBI BLAST was used to align the sequences.
It is investigated that the sequences of CAE patients of epilepsy of CACNB4 gene has mutation at position position 258023bp which changes A>G. In protein sequence, the mutation is at position 413 which changes L (Leucine) to L (Leucine). This mutation has no effect because this is a synonymous mutationwhere the codon CUG is changes to CUA, both codes for same amino acid that is leucine, so no effect at all by this change in exon 13.
Three mutations are present in the intronic region of exon 13 first, second and third at positions 258184bp A deleted, 258289bp and 258191bp of CACNB4 gene respectively. These all mutations are present in intronic region so has no effect in phenotypes of individual.
In conclusion, maximum numbers of samples were needed to observe the effect of mutations and factors that causes epilepsy. This study will now help the researchers to investigate genetic therapies, strategies of genetic counseling and parental diagnosis for the population of Pakistan.
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