Identification Of Pkhd1 Gene Mutation In Polycystic Kidney Disease And In-Silico Molecular Characterization In Different Mammals (Record no. 13790)
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| fixed length control field | 02991nam a22002057a 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20171213095204.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 171213b2017 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 | 2941-T |
| 100 ## - MAIN ENTRY--AUTHOR NAME | |
| Personal name | Taslim Un Nisa (2015-VA-1105) |
| 110 ## - MAIN ENTRY--CORPORATE NAME | |
| Location of meeting | Dr. Wasim Shehzad |
| 245 ## - TITLE STATEMENT | |
| Title | Identification Of Pkhd1 Gene Mutation In Polycystic Kidney Disease And In-Silico Molecular Characterization In Different Mammals |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. (IMPRINT) | |
| Year of publication | 2017. |
| 300 ## - PHYSICAL DESCRIPTION | |
| Number of Pages | 52p.; |
| 502 ## - DISSERTATION NOTE | |
| Dissertation note | Fibrocystin is a large, receptor-like protein that is involved in the tubulogenisis and maintenance of duct-lumen architecture of epithelium. Fibrocystin has a combination with the primary cilia of epithelial cell. Renal tubules (small tube) of kidney where urine is formed lined by tiny hair like projection. Twenty five suspected patient was selected and DNA extracted through organic extraction method from the suspected patient blood. Primers were designed PKHD1gene’s coding sequence located at 6p12.2 in human. The coding region sequenced using the ready mate terminator Sequencing Reaction Kit by Perkin Elmer/ABI and read in an automated sequencer. The allele’s variants have been only reported for Fibrocystin protein in human. All of the sequences are evaluated by using Chromas and Bioedit software for sequence analysis. The in-silico protein analysis is done for normal and mutated alleles through UCSC and RAPTROX. Homology analysis was also done between human and mammals DNA sequence. We found mutations which are associated with ARPKD disease and these variants are most common in other population whereas we also found some new variants. There are some reported mutations which we found in our study such as (c3790C>T),(c3891G>T),(c3790C>T). We found three new mutations in PKHD1 gene. The new mutations which we found are (c3681G>A),(c3804C>T),(c3931A>C).These mutations (c3790C>T) and (c3931A>C) in the exon 32 show significant effect on the gene and protein function. Geneticanalysis of PKHD1gene show thatPakistanifamilies have mutations as compared to other population along with some common exonic regions such as exon 32 whichisalsodescribed by others in two different studies.We also analyze the pedigrees of these patients which are consanguineous families and autosomal recessive polycystic disease. We found total six mutations in this gene including missense/ synonymous mutations. In which, three novel mutations and others are reported mutations. These variations from the results are due to the population and consanguineous families’ pattern.In our study, we also found that Mouse and Chickencan preferably be used as a modal organisms in pathology.This study will also help us in the development of molecular genetic testing for their detection in Pakistani families and population. |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical Term | Molecular Biology & Biotechnology |
| 700 ## - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dr Muhammad Yasir Zahoor |
| 700 ## - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Prof.Dr. Aftab Ahmad Anjum |
| 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 | 2017-12-13 | 2941-T | 2941-T | Thesis |