DNA based Analysis of Disease

1. A common molecular basis for three
inherited kidney stone disease
PRESENTED BY: AHMED MADNI
REGISTRATION # SP14-BTY-011

2. List of contents
Introduction
Schematic presentation of CLC-5
Methods used in detection
Results
Conclusion
References
5/22/2017 2

3. Introduction
Inherited kidney stone disease
Diseases are
I. Dent’s disease
II. X-linked recessive nephrolithiasis
III. X-linked recessive hypophosphataemic rickets
5/22/2017 3

4. Characteristics of gene product
CLCN-5
Encodes for putative renal chloride channel proteins
Functions are
I. Control membrane excitability
II. Transepithelial transport
III. Regulation cell volume
Mutation in this gene cause abnormalities
5/22/2017 4

5. Schematic representation of CLCN-5
5/22/2017 5

6. Methods used in identification
Mutation detected by
1) Restriction Enzymes
2) Sequence Specific Oligonucleotide (SSO)
5/22/2017 6

7. Restriction Enzyme
5/22/2017 7

8. Sequence specific Oligonucleotide (SSO)
5/22/2017 8

9. Results
5/22/2017 9

10. Cont…
5/22/2017 10

11. Conclusion
Molecular genetic studies of CLCN5 demonstrated that
mutations, which resulted in a functional loss, were
associated with Dent's disease, XRN and X-linked
recessive hypophosphatemic rickets (XLRH). Thus,
hereditary disorders of nephrolithiasis are due to
mutations of the novel chloride channel, CLCN5.
5/22/2017 11

12. Reference
Lloyd, S. E., Pearce, S. H., Fisher, S. E., & Steinmeyer, K.
(1996). A common molecular basis for three inherited
kidney stone diseases. Nature, 379(6564), 445.
5/22/2017 12