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OCA1 in Different Ethnic Groups of India is Primarily Due to Founder Mutations in the Tyrosinase Gene

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Title OCA1 in Different Ethnic Groups of India is Primarily
Due to Founder Mutations in the Tyrosinase Gene
 
Creator Chaki, Moumita
Sengupta, M
Mukhopadhyay, A
Rao, Subba
Majumder, P P
Das, M
Samanta, S
Ray, Kunal
 
Subject Molecular & Human Genetics
 
Description Oculocutaneous albinism (OCA) is a heterogeneous group of autosomal recessive disorders characterized by an
abnormally low amount of melanin in the eyes, skin and hair, and associated with common developmental abnormalities
of the eye. Defects in the tyrosinase gene (TYR) cause a common type of OCA, known as oculocutaneous
albinism type 1 (OCA1). The molecular basis of OCA has been studied extensively in different population groups,
but very little information is available on Indian patients. Our investigation covering thirteen ethnic groups of India,
some representing >20 million people, revealed that among 25 OCA families 12 were affected with OCA1, and
that these cases were primarily due to founder mutations in TYR. We detected nine mutations and eight SNPs in
TYR, of which six mutations (five point mutations & one gross deletion) were novel. In contrast to most reports
describing compound heterozygotes, the presence of homozygotes in 10 out of the 12 pedigrees underscores the
lack of intermixing between these ethnic groups in India. Haplotype analysis suggested a few founder chromosomes
causing the disease in the majority of the patients. Direct detection of the mutations prevalent in specific ethnic
groups could be used for carrier detection and genetic counselling.
 
Date 2006
 
Type Article
PeerReviewed
 
Format application/pdf
 
Identifier http://www.eprints.iicb.res.in/410/1/ANNALS_OF_HUMAN_GENETICS%2C_70%2C_623%2D630%2C_[40].pdf
Chaki, Moumita and Sengupta, M and Mukhopadhyay, A and Rao, Subba and Majumder, P P and Das, M and Samanta, S and Ray, Kunal (2006) OCA1 in Different Ethnic Groups of India is Primarily Due to Founder Mutations in the Tyrosinase Gene. Annals of Human Genetics, 70. pp. 623-630.
 
Relation htpp://dx.doi.org/10.1111/j.1469-1809.2006.00247.x
http://www.eprints.iicb.res.in/410/