A 122.5-Kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population

Zanhua Yi, Nanibaa Garrison, Orit Cohen-Barak, Tatiana M. Karafet, Richard A. King, Robert P. Erickson, Michael F. Hammer, Murray H. Brilliant

Research output: Contribution to journalArticlepeer-review

36 Scopus citations

Abstract

Oculocutaneous albinism (OCA) is a genetically heterogeneous disorder. There are four known types of OCA: OCA1-OCA4. The clinical manifestations of all types of OCA include skin and hair hypopigmentation and visual impairment. Although there are a few documented observations of high frequency of albinism among Native Americans, including the Hopi, Zuni, Kuna, Jemez, Laguna, San Juan, and Navajo, no causative molecular defect has been previously reported. In the present study, we show that albinism in one Native American population, the Navajo, is caused by a LINE-mediated 122.5-kilobase deletion of the P gene, thus demonstrating that albinism in this population is OCA2. This deletion appears to be Navajo specific, because this allele was not detected in 34 other individuals with albinism who listed other Native American origins, nor has it been reported in any other ethnic group. The molecular characterization of this deletion allele allowed us to design a three-primer polymerase chain reaction system to estimate the carrier frequency in the Navajo population by screening 134 unrelated normally pigmented Navajos. The carrier frequency was found to be ∼4.5%. The estimated prevalence of OCA2 in Navajos is between ∼1 per 1,500 and 1 per 2,000. We further estimate that this mutation originated 400-1,000 years ago from a single founder.

Original languageEnglish (US)
Pages (from-to)62-72
Number of pages11
JournalAmerican Journal of Human Genetics
Volume72
Issue number1
DOIs
StatePublished - Jan 1 2003

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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