Comprehensive analysis of the molecular basis of oculocutaneous albinism in Indian patients lacking a mutation in the tyrosinase gene
IR@IICB: CSIR-Indian Institute of Chemical Biology, Kolkata
View Archive Info| Field | Value | |
| Title |
Comprehensive analysis of the molecular basis of
oculocutaneous albinism in Indian patients lacking a
mutation in the tyrosinase gene
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| Creator |
Sengupta, M
Mondal, M Jaiswal, P Sinha, S Chaki, Moumita Samanta, S Ray, Kunal |
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| Subject |
Molecular & Human Genetics
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| Description |
Background Oculocutaneous albinism (OCA) refers to a group of inherited disorders
where the patients have little or no pigment in the eyes, skin and hair. Mutations
in genes regulating multi-step melanin biosynthesis are the basis of four ‘classical’
OCA types with overlapping clinical features. There are a few reports on
defects in TYR and a single report on SLC45A2 in Indians affected with OCA but
no report on OCA2 (a major locus related to the disease) and TYRP1.
Objectives To assess and describe a comprehensive picture of the molecular genetic
basis of OCA among Indians with no apparent mutations in TYR.
Methods Twenty-four affected pedigrees from 14 different ethnicities were
analysed for mutations in OCA2, TYRP1, SLC45A2 and SLC24A5 using the polymerase
chain reaction-sequencing approach.
Results Two splice-site and four missense mutations were detected in OCA2 in
seven unrelated pedigrees, including four novel mutations. Haplotype analysis
revealed a founder mutation (Ala787Thr) in two unrelated families of the same
ethnicity. A patient homozygous for a novel SLC45A2 mutation also harboured a
novel OCA2 defect. No mutation was detected in TYRP1 or SLC24A5.
Conclusions Our results suggest that an OCA2 gene defect is the second most prevalent
type of OCA in India after TYR. The presence of homozygous mutations in
the affected pedigrees underscores the lack of intermixing between the affected
ethnicities. Direct detection of the genetic lesions prevalent in specific ethnic
groups could be used for carrier detection and genetic counselling to contain the
disease.
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| Date |
2010
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| Type |
Article
PeerReviewed |
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| Format |
application/pdf
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| Identifier |
http://www.eprints.iicb.res.in/48/1/BRITISH_JOURNAL_OF_DERMATOLOGY_163(3)487%2D494_;2010[43].pdf
Sengupta, M and Mondal, M and Jaiswal, P and Sinha, S and Chaki, Moumita and Samanta, S and Ray, Kunal (2010) Comprehensive analysis of the molecular basis of oculocutaneous albinism in Indian patients lacking a mutation in the tyrosinase gene. British Journal of Dermatology, 163 (3). pp. 487-494. |
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| Relation |
http:/dx.doi.org/10.1111/j.1365-2133.2010.09830.x
http://www.eprints.iicb.res.in/48/ |
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