Mutational Analysis Of Atp7b Gene Responsible For Wilson’s Disease And Its Homology Analysis In Primates And Mouse (Record no. 13698)
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| fixed length control field | 03142nam a22002177a 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20171026151632.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 171026b2017 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 | 2892-T |
| 100 ## - MAIN ENTRY--AUTHOR NAME | |
| Personal name | Amama Ghaffar (2011-VA-375) |
| 110 ## - MAIN ENTRY--CORPORATE NAME | |
| Location of meeting | Dr. M. Yasir Zahoor |
| 245 ## - TITLE STATEMENT | |
| Title | Mutational Analysis Of Atp7b Gene Responsible For Wilson’s Disease And Its Homology Analysis In Primates And Mouse |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. (IMPRINT) | |
| Year of publication | 2017. |
| 300 ## - PHYSICAL DESCRIPTION | |
| Number of Pages | 94p.; |
| 502 ## - DISSERTATION NOTE | |
| Dissertation note | Copper being an essential element to carry out different cellular processes normally is maintained through proper regulation mechanisms to avoid its accumulation in the body. ATP7B gene that codes for ATP dependent P type ATP7B protein controls the regulation of copper in the body. It is required for the proper delivery of copper to apoceruloplasmin and its excretion through bile in the form of feces. Therefore, mutation occurring in the ATP7B gene can cause excessive cellular copper accumulation which results into Wilson’s disease. Variation in ATP7B gene related to copper transportation leads to Wilson’s disease and transmitted in generation through recessive pattern of inheritance. For this study blood samples of fifteen Wilson’s disease affected patients along with normal individuals of the same family were collected from Children's Hospital & Institute of Child Health, Lahore. DNA was extracted from blood through organic extraction method followed by DNA quantification. Amplification of exons 8, 13, 14 and 18 of ATP7B gene was performed after designing specific primers for these specific regions. Sequencing of amplified products was done through dideoxy chain termination method. A disease causing mutation of ATP7B gene c.3155 C>T; p1052 Proline (CCC) to Leucine (CTC) has been mapped on exon 14 in family with Wilson’s disease. This mutation can be used for genetic testing, prenatal diagnosis and genetic counseling. No mutation was found in exons 8, 13 and 18 which mean that further study needs to be done to find more local mutation(s) that can be used for fast direct genetic testing of Wilson’s disease patients or the carriers with heterozygotic conditions who can develop this disease at any age of their life. Results 87 MUSCLE and Clustal Omega were used for homology analysis of ATP7B gene nucleotide and protein sequences that revealed Gorilla to be closest to human regarding coding sequences, while Clustal Omega output file showed all the species varied highly in their protein structure homologies. Through the prediction of secondary structure homologies it was seen that marmoset was closest to humans. This study helped in providing prenatal diagnosis and genetic screening services in the country. It has facilitated in selecting animal models for further study and research on ATP7B gene and molecular pathogenesis of the Wilson’s disease leading to prevention and cure of disease. |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical Term | Molecular Biology & Biotechnology |
| 700 ## - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Prof. Dr. Huma Arshad Cheema |
| 700 ## - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dr. M. Imran |
| 700 ## - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dr. Amjad Riaz |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) | |
| Koha item type | Thesis |
| 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 | 2017-10-26 | 2892-T | 2892-T | Thesis |