Study Of Genetic Polymorphism In Exon 7 And 9 Of Glucosidase Beta Acid (Gba) Gene In Gaucher Diseased Patients From Punjab, Pakistan
By: Ayesha Khalid (2013-VA-07)
| Dr. M. Yasir Zahoor.
Contributor(s): Dr. Sehrish Firyal | Mr. Tariq Mahmood.
Material type: 
BookPublisher: 2015Subject(s): Department of Molecular Biology and BiotechnologyDDC classification: 2338-T 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.
| Item type | Current location | Collection | Call number | Status | Date due | Barcode | Item holds |
|---|---|---|---|---|---|---|---|
Thesis
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UVAS Library Thesis Section | Veterinary Science | 2338-T (Browse shelf) | Available | 2338-T |
Browsing UVAS Library Shelves , Shelving location: Thesis Section , Collection code: Veterinary Science Close shelf browser
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.
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