Uta Francke

Publication Details

  • AFRICAN ORIGIN OF AN INTRAGENIC DELETION OF THE HUMAN-P GENE IN TYROSINASE POSITIVE OCULOCUTANEOUS ALBINISM NATURE GENETICS DURHAMPIERRE, D., Gardner, J. M., Nakatsu, Y., King, R. A., FRANCKE, U., Ching, A., Aquaron, R., DELMARMOL, V., Brilliant, M. H. 1994; 7 (2): 176-179

    Abstract:

    Oculocutaneous albinism (OCA) is a genetically heterogeneous hypopigmentation disorder. One of the two major autosomal recessive forms involves the tyrosinase gene (OCA1), while the other form (OCA2) has recently been associated with alterations of the P gene on chromosome 15. OCA2 is about twice as common as OCA1 in African and African-American populations. We now describe an interstitial deletion that removes a single exon of the P gene. In a large family from an inbred population of tri-racial origin, all individuals with OCA2 were found to be homozygous for this allele. Moreover, the same mutant P allele was detected in several unrelated African American individuals with OCA2, but not in Caucasians with OCA2. The detection of the same allele in two unrelated Africans with OCA2 indicates an African origin for this allele.

    View details for Web of Science ID A1994NQ03700018

    View details for PubMedID 7920637

Stanford Medicine Resources:

Footer Links: