ArticleAmerican journal of human genetics2003
A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population.
Article in American journal of human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 54 citations in OpenAlex.
- Determining a Worldwide Prevalence of Oculocutaneous Albinism: A Systematic Review.Investigative ophthalmology & visual science · 2023Pooled it
- Haplotype-Based Analysis of OCA2 Variants in Oculocutaneous Albinism.Pigment cell & melanoma research · 2026Article
- Genetics of Skin, Hair, and Eye Color in Human Pigmentation Disorders.Annals of human genetics · 2025Review
- Article
- A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus.Human mutation · 2021Article
- Autosomal recessive diseases among the Athabaskans of the southwestern United States: anthropological, medical, and scientific aspects.Journal of applied genetics · 2021Review
- Weaving the Strands of Life (Human biology · 2020Review
- Homozygosity mapping in albinism patients using a novel panel of 13 STR markers inside the nonsyndromic OCA genes: introducing 5 novel mutations.Journal of human genetics · 2016Article
- Integrated small copy number variations and epigenome maps of disorders of sex development.Human genome variation · 2016Article
- Correlations between long inverted repeat (LIR) features, deletion size and distance from breakpoint in human gross gene deletions.Scientific reports · 2015Article
- High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients.Human genetics · 2011Article
- Variants of the melanocortin 1 receptor gene (MC1R) and P gene as indicators of the population origin of an individual.International journal of legal medicine · 2009Article
- Regressive evolution in Astyanax cavefish.Annual review of genetics · 2009Review
- Oculocutaneous albinism type 2 (OCA2) with homozygous 2.7-kb deletion of the P gene and sickle cell disease in a Cameroonian family. Identification of a common TAG haplotype in the mutated P gene.Journal of human genetics · 2007Article
- Non-reporting and inconsistent reporting of race and ethnicity in articles that claim associations among genotype, outcome, and race or ethnicity.Journal of medical ethics · 2006Article
- Evolution of albinism in cave planthoppers by a convergent defect in the first step of melanin biosynthesis.Evolution & developmentArticle
- Emerging model systems in evo-devo: cavefish and microevolution of development.Evolution & developmentArticle
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Authors and funding
8 authors at 2 institutions in 1 country.
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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 approximately 4.5%. The estimated prevalence of OCA2 in Navajos is between approximately 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.
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