Abstract
A subject with clinical and biochemical tyrosinase positive oculocutaneous albinism (OCA) also had a balanced translocation, 46,XY,t(2;4)(q31.2;q31.22). This observation provides evidence for a possible gene locus in the q31 region of chromosome 2 or 4.
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- Heim R. A., Dunn D. S., Candy S. E., Zwane E., Kromberg J. G., Jenkins T. The tyrosinase-positive oculocutaneous albinism locus is not linked to the beta-globin locus in man. Hum Genet. 1988 May;79(1):89–89. doi: 10.1007/BF00291719. [DOI] [PubMed] [Google Scholar]
- King R. A., Witkop C. J. Detection of heterozygotes for tyrosinase-negative oculocutaneous albinism by hairbulb tyrosinase assay. Am J Hum Genet. 1977 Mar;29(2):164–168. [PMC free article] [PubMed] [Google Scholar]
- O'Donnell F. E., Jr, King R. A., Green W. R., Witkop C. J., Jr Autosomal recessively inherited ocular albinism. A new form of ocular albinism affecting females as severely as males. Arch Ophthalmol. 1978 Sep;96(9):1621–1625. doi: 10.1001/archopht.1978.03910060255013. [DOI] [PubMed] [Google Scholar]
- Searle A. G. Comparative genetics of albinism. Ophthalmic Paediatr Genet. 1990 Sep;11(3):159–164. doi: 10.3109/13816819009020974. [DOI] [PubMed] [Google Scholar]
- Spritz R. A., Strunk K. M., Giebel L. B., King R. A. Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism. N Engl J Med. 1990 Jun 14;322(24):1724–1728. doi: 10.1056/NEJM199006143222407. [DOI] [PubMed] [Google Scholar]
- Wallis C. E., Beighton P. H. Synchrony of oculocutaneous albinism, the Prader-Willi syndrome, and a normal karyotype. J Med Genet. 1989 May;26(5):337–339. doi: 10.1136/jmg.26.5.337. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Witkop C. J., Jr Albinism. Clin Dermatol. 1989 Apr-Jun;7(2):80–91. doi: 10.1016/0738-081x(89)90059-x. [DOI] [PubMed] [Google Scholar]