Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2).
Type II oculocutaneous albinism (OCA2) is an autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in the skin, hair, and eyes. OCA2, which results from mutations of the P gene, is the most frequent type of albinism in African and African-American patients. OCA2 is especially frequent in Tanzania, where it occurs with an incidence of approximately 1/1,400. We have identified abnormalities of the P gene in each of 13 unrelated patients with OCA2 from Tanzania. One of these, a deletion of exon 7, is strongly predominant, accounting for approximately 77% of mutant alleles in this group of patients.
Spritz
R A
RA
Department of Medical Genetics, University of Wisconsin, Madison 53706, USA.
Fukai
K
K
Holmes
S A
SA
Luande
J
J
D016115:Albinism, Oculocutaneous / Q000145:classification / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D005091:Exons / Q000235:genetics; D016368:Frameshift Mutation; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D026901:Membrane Transport Proteins; D008969:Molecular Sequence Data; D009154:Mutation; D009549:Nigeria / Q000453:epidemiology; D017354:Point Mutation; D017384:Sequence Deletion; D013636:Tanzania / Q000453:epidemiology
D002352:Carrier Proteins; D008565:Membrane Proteins; D026901:Membrane Transport Proteins; C489600:OCA2 protein, human