Molecular Genetic Studies on Oculocutaneous Albinism (OCA) with Special Reference to Tyrosinase – the Causal Gene for OCA type 1
IR@IICB: CSIR-Indian Institute of Chemical Biology, Kolkata
View Archive Info| Field | Value | |
| Title |
Molecular Genetic Studies on Oculocutaneous Albinism (OCA) with Special Reference to Tyrosinase – the Causal Gene for OCA type 1
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| Creator |
Chaki, Moumita
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| Subject |
Molecular & Human Genetics
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| Description |
Oculocutaneous albinism (OCA) is a heterogeneous group of autosomal recessive disorders characterized by the congenital hypopigmentation of ocular and cutaneous tissues and associated with some common developmental abnormalities of the eye. Mutations in genes that directly or indirectly regulate the multistep process of melanin biosynthesis are the basis of this disease. OCA is reported as one of the four major causes of childhood blindness in India (Gothwal and Herse, 2000) and its occurence is more common in some locations of the
country. However, very little is known about the molecular basis of the disease in Indian patients, although carrier detection followed by genetic counseling before marriage is the only way to contain the disease. The study presented in this dissertation is focused on the
understanding of the molecular pathogenesis of OCA in Indian patients recruited from eastern and southern regions of India. The tyrosinase gene (TYR), which encodes the rate-limiting enzyme of the melanin biosynthetic pathway and on mutation causes OCA type 1 (OCA1),
was used as the first candidate gene to study OCA. In addition to cosegregation analysis followed by mutation screening, functional approaches have been taken to explore the molecular basis of OCA1 pathogenesis.
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| Date |
2007
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| Type |
Thesis
NonPeerReviewed |
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| Format |
application/pdf
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| Identifier |
http://www.eprints.iicb.res.in/655/1/Thesis_2007_Moumita_Chaki.pdf
Chaki, Moumita (2007) Molecular Genetic Studies on Oculocutaneous Albinism (OCA) with Special Reference to Tyrosinase – the Causal Gene for OCA type 1. PhD thesis, Jadavpur University. |
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| Relation |
http://www.eprints.iicb.res.in/655/
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