This retrospective review identified 170 individuals with a specific type of albinism identified by mutation(s) in a gene known to cause albinism (for OCA1, OCA2, and Hermansky-Pudlak syndrome ([HPS]) or a specific phenotype (white hair and no melanin pigment in OCA1A; pigmentary mosaicism in the obligate carriers for males with OA1).
We have developed a computational procedure to determine the SNPs in the 3'UTR region of mRNA of OCA (TYR, OCA2, TYRP1 and SLC45A2) and OA (GPR143) genes which will be a potential cause for albinism.
The present objectives are to review the literature on albinism (OCA2) in Amerindians, and propose hypotheses for the variable frequencies of the OCA2 gene in Amerindian populations, which include chance processes (founder effect, bottleneck effect, and genetic drift) in small populations, natural selection, cultural selection, and the interaction of situations that led to the increase of the frequency of the albino gene in some generations.
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.