Type 2 oculocutaneous albinism (OCA2) in Zimbabwe and Cameroon: distribution of the 2.7-kb deletion allele of the P gene

1997 ◽  
Vol 100 (5-6) ◽  
pp. 651-656 ◽  
Author(s):  
Neelu Puri ◽  
Donna Durham-Pierre ◽  
Robert Aquaron ◽  
Patricia M. Lund ◽  
Richard A. King ◽  
...  
Keyword(s):  
Oculocutaneous Albinism ◽  
Deletion Allele ◽  
P Gene

scholarly journals Six Novel P Gene Mutations and Oculocutaneous Albinism Type 2 Frequency in Japanese Albino Patients

2003 ◽  
Vol 120 (5) ◽  
pp. 781-783 ◽  
Author(s):  
Tamio Suzuki ◽  
Yoshinori Miyamura ◽  
Jun Matsunaga ◽  
Hiroshi Shimizu ◽  
Yasuhiro Kawachi ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Oculocutaneous Albinism ◽  
P Gene

scholarly journals 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

2007 ◽  
Vol 52 (9) ◽  
pp. 771-780 ◽  
Author(s):  
Robert Aquaron ◽  
Nadem Soufir ◽  
Jean-Louis Bergé-Lefranc ◽  
Catherine Badens ◽  
Frederic Austerlitz ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Oculocutaneous Albinism ◽  
Cell Disease ◽  
P Gene

scholarly journals A 122.5-Kilobase Deletion of the P Gene Underlies the High Prevalence of Oculocutaneous Albinism Type 2 in the Navajo Population

2003 ◽  
Vol 72 (1) ◽  
pp. 62-72 ◽  
Author(s):  
Zanhua Yi ◽  
Nanibaa’ Garrison ◽  
Orit Cohen-Barak ◽  
Tatiana M. Karafet ◽  
Richard A. King ◽  
...  
Keyword(s):  
Oculocutaneous Albinism ◽  
P Gene ◽  
High Prevalence

scholarly journals MC1R Mutations Modify the Classic Phenotype of Oculocutaneous Albinism Type 2 (OCA2)

2003 ◽  
Vol 73 (3) ◽  
pp. 638-645 ◽  
Author(s):  
Richard A. King ◽  
Rebecca K. Willaert ◽  
Ramona M. Schmidt ◽  
Jacy Pietsch ◽  
Sarah Savage ◽  
...  
Keyword(s):  
Oculocutaneous Albinism ◽  
Classic Phenotype

scholarly journals The distinctive geographic patterns of common pigmentation variants at the OCA2 gene

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Kenneth K. Kidd ◽  
Andrew J. Pakstis ◽  
Michael P. Donnelly ◽  
Ozlem Bulbul ◽  
Lotfi Cherni ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Oculocutaneous Albinism ◽  
Selection Effects ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Eye Color ◽  
Geographic Patterns ◽  
Population Genetic Variation ◽  
Oca2 Gene

Abstract Oculocutaneous Albinism type 2 (OCA2) is a gene of great interest because of genetic variation affecting normal pigmentation variation in humans. The diverse geographic patterns for variant frequencies at OCA2 have been evident but have not been systematically investigated, especially outside of Europe. Here we examine population genetic variation in and near the OCA2 gene from a worldwide perspective. The very different patterns of genetic variation found across world regions suggest strong selection effects may have been at work over time. For example, analyses involving the variants that affect pigmentation of the iris argue that the derived allele of the rs1800407 single nucleotide polymorphism, which produces a hypomorphic protein, may have contributed to the previously demonstrated positive selection in Europe for the enhancer variant responsible for light eye color. More study is needed on the relationships of the genetic variation at OCA2 to variation in pigmentation in areas beyond Europe.

Mutations of the P Gene in Oculocutaneous Albinism, Ocular Albinism, and Prader-Willi Syndrome Plus Albinism

1994 ◽  
Vol 330 (8) ◽  
pp. 529-534 ◽  
Author(s):  
Seung-Taek Lee ◽  
Robert D. Nicholls ◽  
Sarah Bundey ◽  
Renata Laxova ◽  
Maria Musarella ◽  
...  
Keyword(s):  
Oculocutaneous Albinism ◽  
Prader Willi Syndrome ◽  
Ocular Albinism ◽  
P Gene

A splice site mutation is the cause of the high prevalence of oculocutaneous albinism type 2 in the Kuna population

2009 ◽  
Vol 22 (5) ◽  
pp. 645-647 ◽  
Author(s):  
Androuw Carrasco ◽  
Elaine M. Forbes ◽  
Pascale Jeambrun ◽  
Murray H. Brilliant
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Oculocutaneous Albinism ◽  
Site Mutation ◽  
High Prevalence

scholarly journals In Southern Africa, Brown Oculocutaneous Albinism (BOCA) Maps to the OCA2 Locus on Chromosome 15q: P-Gene Mutations Identified

2001 ◽  
Vol 68 (3) ◽  
pp. 782-787 ◽  
Author(s):  
Prashiela Manga ◽  
Jennifer G.R. Kromberg ◽  
Angela Turner ◽  
Trefor Jenkins ◽  
Michele Ramsay
Keyword(s):  
Southern Africa ◽  
Gene Mutations ◽  
Oculocutaneous Albinism ◽  
P Gene
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