Study Of Genetic Association Of Pax Gene To Waardenburg Syndrome In Pakistani Patients (Record no. 3073)
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| fixed length control field | 02234nam a2200193Ia 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20151005150247.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 150525s2011xx 000 0 und d |
| 041 ## - LANGUAGE CODE | |
| Language code of text/sound track or separate title | eng |
| 082 ## - DEWEY DECIMAL CLASSIFICATION NUMBER | |
| Classification number | 1359,T |
| 100 ## - MAIN ENTRY--AUTHOR NAME | |
| Personal name | Huma Tabassam |
| 110 ## - MAIN ENTRY--CORPORATE NAME | |
| Location of meeting | Dr. Ali Raza Awan |
| 245 ## - TITLE STATEMENT | |
| Title | Study Of Genetic Association Of Pax Gene To Waardenburg Syndrome In Pakistani Patients |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. (IMPRINT) | |
| Year of publication | 2011 |
| 502 ## - DISSERTATION NOTE | |
| Dissertation note | Waardenburg syndrome is an auditory-pigmentary disorder that combines clinical features of pigmentary abnormalities of the skin, hair and irides, sensorineural hearing loss, and Hirschsprung disease. Patients with WS have been shown to have mutations in the PAX gene as well as in other genes. In the present study, the locus specific polymorphisms of human PAX gene isolated from healthy and diseased Pakistani individuals was investigated for genetic association of the polymorphism with the Waardenburg syndrome. Mutation in PAX gene was identified from Pakistani patients with Waardenburg syndrome. For the purpose, blood samples of patients suffering from Waardenburg syndrome were collected from different hospitals. DNA was isolated from WBCs suspended in the preserved samples using standard organic DNA extraction protocol. Primers were designed using Primer3 programme. PCR conditions were optimized and mutation discovery was performed on all DNA samples. Analysis of the sequences and mutations was done with the help of appropriate bioinformatics softwares. Analysis of the variable sites revealed T?C transitions, (mutations) at position number 244 was found in exon 2 of the gene. All 17 patients exhibit this mutation at the same position. Results of normal patients where there was no change found and PAX3 gene is not mentioned as it was not significant to mention. PAX gene has not been studied in the Pakistani patients earlier. The mutational investigation and association study will help to understand the genetic basis of the Waardenburg syndrome not only in Pakistan but it will also contribute to the global efforts to understand the human genetics. |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical Term | Institute of Biochemistry & Biotechnology |
| 700 ## - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Miss. Sehtish Faryal |
| 700 ## - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mrs. Shagufta |
| 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 | 2015-05-29 | 1359,T | 1359,T | Thesis |