Study Of Genetic Association Of Pax Gene To Waardenburg Syndrome In Pakistani Patients
By: Huma Tabassam
| Dr. Ali Raza Awan.
Contributor(s): Miss. Sehtish Faryal | Mrs. Shagufta.
Material type: 
BookPublisher: 2011Subject(s): Institute of Biochemistry & BiotechnologyDDC classification: 1359,T 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.
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Thesis
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UVAS Library Thesis Section | Veterinary Science | 1359,T (Browse shelf) | Available | 1359,T |
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.
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