Moradipour, N. (2012) Mutations screening in 7 and 13 exons of TMC1 gene on DFNB7/11 locous in Iranian probands affected wit autosomal recessive non-syndromic hearing loss using PCR-SSCP/HA. Masters thesis, University of Zabol.
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Mutations screening in 7 and 13 exons of TMC1 gene on DFNB7 11 locous.pdf Download (3MB) | Preview |
Abstract
Hearing Loss is the most common birth defect which occurs in approximately 1/1000 newborns. More than 50% of deaf cases are being inherited from 70% are non-syndromic. Hearing Loss is a very heterogeneous trait and can be caused due to genetic or environmental factors or both. It is estimated that about Forty-six genes are involved in causing non-syndromic hearing impairment. In the present study, we have investigated mutations of the TMC1 gene locus DFNB7/11 in a cohort of 100 patients with Hearing Loss in Semnan, Sistan VA Baluchistan, Fars, Khuzestan, Kohgilooye VA Boyer Ahmad, Kurdistan, Chahar Mahal VA Bakhtiari, Booshehr, Golestan and Gilan provinces. In this descriptive-lab based study we investigated for frequency of TMC1 gene mutation in exons 7 and 13 of TMC1 gene in 100 patients. DNA was extracted from blood samples of all patients following the standard phenol chloroform procedure. These exons of the TMC1 gene was polymerase chain reaction (PCR) amplified. Then TMC1 gene mutations were investigated using Polymerase Chain Reaction – Single Stranded Conformation Polymorphism (PCR-SSCP) for the 2 exons of the gene. In addition, all of the samples were checked by Heteroduplex Analysis (HA) and sequencing reaction for the presence of any gene variation. We have not observed any mutation in these 2 exons. Based on data from the present study, We conclude that TMC1 gene mutations have a very low contribution to deafness in patients in in Semnan, Sistan va Baluchistan, Fars, Khuzestan, Kohgilooye va Boyer Ahmad, Kurdistan, Chahar Mahal va Bakhtiari, Booshehr, Golestan and Gilan provinces and are not of great clinical importance in these regions. However the more investigation is recommended in other parts of gene, tribes and different populations through country. More research will clarify the role of this gene and its relation with deafness and provide essential information for the prevention and management of auditory disorder of this gene.
| Item Type: | Thesis (Masters) |
|---|---|
| Subjects: | Q Science > QH Natural history > QH426 Genetics |
| Depositing User: | admin admin1 admin2 |
| Date Deposited: | 26 Oct 2016 10:09 |
| Last Modified: | 26 Oct 2016 10:09 |
| URI: | http://eprints.uoz.ac.ir/id/eprint/916 |
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