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Founder effect analysis of disease haplotypes in DFNB23/ USH1F li | 29477
Journal of Cell Science & Therapy

Journal of Cell Science & Therapy
Open Access

ISSN: 2157-7013

+44 1300 500008

Founder effect analysis of disease haplotypes in DFNB23/ USH1F linked Pakistani families


3rd World Congress on Cell Science & Stem Cell Research

November 20-22, 2013 DoubleTree by Hilton Baltimore-BWI Airport, MD, USA

Riffat Mehboob

King Edward Medical University, Pakistan

Accepted Abstracts: J Cell Sci Ther

Abstract :

Usher syndromes are a group of autosomal recessive disorders characterized by moderate to profound sensorineural hearing loss and progressive visual loss from retinitis pigmentosa. Clinically they are classified into three types on the basis of phenotypes. Within each clinical group molecular heterogeneity exists and people with indistinguishable phenotypes have mutations in different genes. Protocadherin-15 (PCDH15) is one of the five genes identified as being mutated in Usher 1 syndrome and defines Usher syndrome type 1F (USH1F). Mutation in this gene also cause nonsyndromic deafness DFNB23. A total of 25 families were collected in which pattern of inheritance was autosomal recessive and were screened for locus DFNB23 by using fluorescently labeled markers D10S2529, D10S546, and D10S2522. Three families were found to be linked with DFNB23. Haplotypes of these families were compared with 12 previously linked families obtained from CEMB repository. Seven families divided into two groups shared same haplotypes while in other eight families, no correlation was found between the haplotypes. Variability of haplotypes among families indicate presence of different type of mutations and families with same haplotypes may have same founder. These results will lead to better understanding of hearing impairment caused by mutations in PCDH15 and will help in identification of carriers and genetic counselling.

Biography :

Riffat Mehboob is Assistant Professor in Department of Biomedical Sciences, King Edward Medical University, Lahore, Pakistan. She has done Ph.D. in Pathology (Neuroscience) from University of Milan, Italy and M.Phil in Medical Genetics from National Center of Excellence in Molecular Biology, Lahore, Pakistan. In Ph.D. she studied the expression of neuropeptide Substance P on brainstems of victims of sudden perinatal death. Different pattern of expression of substance P was observed in sudden fetal, infant and stillbirths as compared to normal controls. She is now involved in teaching to postgraduate medical students and Ph.D. students. Mentoring many Ph.D. and M.Phil students. She has successfully co-supervised a Ph.D. student on Mutation analysis in Retinoblastoma gene in Pakistani population and supervising 4 Ph.D. students on Multiple Sclerosis, Gene expression studies in Oral squamous cell carcinoma, Lung and colorectal carcinoma. Her research work is related to Cancer genetics, clinical research and epidemiology. She has published articles in the field of Neuropathology, Clinical Studies, Genetics, Cancer and Histopathology. She is a member of International Academy of Pathology and International Federation for Infection control. She is member of editorial board and reviewer of some journals.

Email: mehboob.riffat@gmail.com

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