Study Of Genetic Polymorphism In Exon 7 And 9 Of Glucosidase Beta Acid (Gba) Gene In Gaucher Diseased Patients From Punjab, Pakistan (Record no. 6505)
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| fixed length control field | 02319nam a22001937a 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20151109093642.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 151109b2015 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 | 2338-T |
| 100 ## - MAIN ENTRY--AUTHOR NAME | |
| Personal name | Ayesha Khalid (2013-VA-07) |
| 110 ## - MAIN ENTRY--CORPORATE NAME | |
| Location of meeting | Dr. M. Yasir Zahoor |
| 245 ## - TITLE STATEMENT | |
| Title | Study Of Genetic Polymorphism In Exon 7 And 9 Of Glucosidase Beta Acid (Gba) Gene In Gaucher Diseased Patients From Punjab, Pakistan |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. (IMPRINT) | |
| Year of publication | 2015. |
| 502 ## - DISSERTATION NOTE | |
| Dissertation note | Gaucher disease (GD) is an inborn metabolic disease transmitted through recessive pattern of inheritance and it is a pan-ethnic disease. It is the most common lysosomal storage disease caused by the deficiency of glucocerebrosidase (GCase), a lysosomal enzyme use in the degradation of macromolecules into simpler molecules. Glucosidase beta acid (GBA) gene encode glucocerebrosidase enzyme and mutations in this gene is responsible for glucocerebrosidase deficiency which results in an accumulation of unbroken glycolipids in those organs rich in monocyte-phagocyte immune system elements i.e. spleen, liver, bone marrow and leads to histological changes. GBA is located on chromosome 1q21 consisting of 11 exons and 10 introns having 7.8kb length. It is divided into three types (I, II and III) on the basis of neurological involvement. More than 300 mutations have been reported in GBA and cause the GD. The present study was performed in order to characterize GBA gene in GD patients from Punjab. Blood samples of 10 patients,enrolled in Children Hospital, Lahore, were taken from DNA repository of Molecular and Genomic Lab at IBBT, UVAS Lahore. The DNA was extracted using organic method. Next step was the amplification of extracted DNA using PCR. After it, the PCR product is purified and this purified PCR product was sent for sequencing. Sequencing of exon 4, 7 and 9 was done using dideoxy sequencing method. After applying different bioinformatics tool, it was found that there was no muttaion in these exons but a heterozygotic variation G>A was found in intron 8. This finging will help in demonstration of molecular pathogenesis of Gaucher disease. |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical Term | Department of Molecular Biology and Biotechnology |
| 700 ## - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dr. Sehrish Firyal |
| 700 ## - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mr. Tariq Mahmood |
| 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 | 2015-11-09 | 2338-T | 2338-T | Thesis |