OCA1 in different ethnic groups of india is primarily due to founder mutations in the tyrosinase gene

M. Chaki, M. Sengupta, A. Mukhopadhyay, I. Subba Rao, P. P. Majumder, M. Das, S. Samanta, K. Ray

Research output: Contribution to journalArticle

16 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)623-630
Number of pages8
JournalAnnals of Human Genetics
Volume70
Issue number5
DOIs
StatePublished - Sep 2006

Fingerprint

Oculocutaneous Albinism
Monophenol Monooxygenase
Ethnic Groups
India
Mutation
Genes
Eye Abnormalities
Melanins
Genetic Counseling
Homozygote
Pedigree
Heterozygote
Population Groups
Point Mutation
Hair
Haplotypes
Single Nucleotide Polymorphism
Chromosomes
Skin
Oculocutaneous albinism type 1

Keywords

  • Albinism
  • OCA1
  • Oculocutaneous albinism type 1
  • TYR
  • Tyrosinase

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Chaki, M., Sengupta, M., Mukhopadhyay, A., Subba Rao, I., Majumder, P. P., Das, M., ... Ray, K. (2006). OCA1 in different ethnic groups of india is primarily due to founder mutations in the tyrosinase gene. Annals of Human Genetics, 70(5), 623-630. https://doi.org/10.1111/j.1469-1809.2006.00247.x

OCA1 in different ethnic groups of india is primarily due to founder mutations in the tyrosinase gene. / Chaki, M.; Sengupta, M.; Mukhopadhyay, A.; Subba Rao, I.; Majumder, P. P.; Das, M.; Samanta, S.; Ray, K.

In: Annals of Human Genetics, Vol. 70, No. 5, 09.2006, p. 623-630.

Research output: Contribution to journalArticle

Chaki, M, Sengupta, M, Mukhopadhyay, A, Subba Rao, I, Majumder, PP, Das, M, Samanta, S & Ray, K 2006, 'OCA1 in different ethnic groups of india is primarily due to founder mutations in the tyrosinase gene', Annals of Human Genetics, vol. 70, no. 5, pp. 623-630. https://doi.org/10.1111/j.1469-1809.2006.00247.x
Chaki, M. ; Sengupta, M. ; Mukhopadhyay, A. ; Subba Rao, I. ; Majumder, P. P. ; Das, M. ; Samanta, S. ; Ray, K. / OCA1 in different ethnic groups of india is primarily due to founder mutations in the tyrosinase gene. In: Annals of Human Genetics. 2006 ; Vol. 70, No. 5. pp. 623-630.
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