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Tyrosinase gene mutations in the Chinese Han population with OCA1

  • NING LIU (a1), XIANG DONG KONG (a1), HUI RONG SHI (a1), QING HUA WU (a1) and MIAO JIANG (a1)...


Oculocutaneous albinism (OCA) is a heterogeneous autosomal recessive genetic disorder that affects melanin synthesis. OCA results in reduced or absent pigmentation in the hair, skin and eyes. Type 1 OCA (OCA1) is the result of tyrosinase (TYR) gene mutations and is a severe disease type. This study investigated TYR mutations in a Chinese cohort with OCA1. This study included two parts: patient genetic study and prenatal genetic diagnosis. A total of 30 OCA1 patients were subjected to TYR gene mutation analysis. Ten pedigrees were included for prenatal genetic diagnosis. A total of 100 unrelated healthy Chinese individuals were genotyped for controls. The coding sequence and the intron/exon junctions of TYR were analysed by bidirectional DNA sequencing. In this study, 20 mutations were identified, four of which were novel. Of these 30 OCA1 patients, 25 patients were TYR compound heterozygous; two patients carried homozygous TYR mutations; and three were heterozygous. Among the ten prenatally genotyped fetuses, three fetuses carried compound heterozygous mutations and seven carried no mutation or only one mutant allele of TYR and appeared normal at birth. In conclusion, we identified four novel TYR mutations and showed that molecular-based prenatal screening to detect TYR mutations in a fetus at risk for OCA1 provided essential information for genetic counselling of couples at risk.

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Corresponding author

* Corresponding author: XD Kong, Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Jianshe Rd, Erqi District, Zhengzhou, Henan 450052, P. R. China. Tel: 86-0371-66862729 and 86-15037133788. Fax: 86-0371-66862729. E-mail:


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Barton, D. E., Kwon, B. S. & Francke, U. (1988). Human tyrosinase gene, mapped to chromosome 11 (q14––q21), defines second region of homology with mouse chromosome 7. Genomics 3, 1724.
Boissy, R. E., Zhao, H., Oetting, W. S., Austin, L. M., Wildenberg, S. C., Boissy, Y. L., Zhao, Y., Sturm, R. A., Hearing, V. J., King, R. A. & Nordlund, J. J. (1996). Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as “OCA3”. American Journal of Human Genetics 58, 11451156.
Chaki, M., Sengupta, M., Mondal, M., Bhattacharya, A., Mallick, S., Bhadra, R., Indian Genome Variation Consortium & Ray, K. (2011). Molecular and functional studies of tyrosinase variants among Indian oculocutaneous albinism type 1 patients. The Journal of Investigative Dermatology 131, 260262.
Durham-Pierre, D., Gardner, J. M., Nakatsu, Y., King, R. A., Francke, U., Ching, A., Aquaron, R., del Marmol, V. & Brilliant, M. H. (1994). African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism. Nature Genetics 7, 176179.
Fernandez, L. P., Milne, R. L., Pita, G., Aviles, J. A., Lazaro, P., Benitez, J. & Ribas, G. (2008). SLC45A2: a novel malignant melanoma-associated gene. Human Mutation 29, 11611167.
Giebel, L. B., Strunk, K. M. & Spritz, R. A. (1991). Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment. Genomics 9, 435445.
Goto, M., Sato-Matsumura, K. C., Sawamura, D., Yokota, K., Nakamura, H. & Shimizu, H. (2004). Tyrosinase gene analysis in Japanese patients with oculocutaneous albinism. Journal of Dermatological Science 35, 215220.
Grønskov, K., Ek, J., Sand, A., Scheller, R., Bygum, A., Brixen, K., Brondum-Nielsen, K. & Rosenberg, T. (2009). Birth prevalence and mutation spectrum in Danish patients with autosomal recessive albinism. Investigative Ophthalmology & Visual Science 50, 10581064.
Hearing, V. J., Tsukamoto, K., Urabe, K., Kameyama, K., Montague, P. M. & Jackson, I. J. (1992). Functional properties of cloned melanogenic proteins. Pigment Cell Research 5, 264270.
Hsieh, Y. Y., Wu, J. Y., Chang, C. C., Tsai, F. J., Lee, C. C., Tsai, H. D., & Tsai, C. H. (2001). Prenatal diagnosis of oculocutaneous albinism two mutations located at the same allele. Prenatal Diagnosis 21, 200201.
Hutton, S. M. & Spritz, R. A. (2008). A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. Investigative Ophthalmology & Visual Science 49, 868872.
King, R. A., Pietsch, J., Fryer, J. P., Savage, S., Brott, M. J., Russell-Eggitt, I., Summers, C. G. & Oetting, W. S. (2003). Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype. Human Genetics 113, 502513.
Ko, J. M., Yang, J. A., Jeong, S. Y. & Kim, H. J. (2012). Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism. Molecular Medicine Reports 5, 943948.
Li, H. Y., Wu, W. I., Zheng, H., Duan, H. L., Chen, Z. & Chen, L. M. (2006 a). [Prenatal gene diagnosis of oculocutaneous albinism type I]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 23, 280282.
Li, W., He, M., Zhou, H., Bourne, J. W. & Liang, P. (2006 b). Mutational data integration in gene-oriented files of the Hermansky-Pudlak Syndrome database. Human Mutation 27, 402407.
Lin, S. Y., Chien, S. C., Su, Y. N., Lee, C. N. & Chen, C. P. (2006). Rapid genetic analysis of oculocutaneous albinism (OCA1) using denaturing high performance liquid chromatography (DHPLC) system. Prenatal Diagnosis 26, 466470.
Montoliu, L., Grønskov, K., Wei, A. H., Martinez-Garcia, M., Fernandez, A., Arveiler, B., Morice-Picard, F., Riazuddin, S., Suzuki, T., Ahmed, Z. M., Rosenberg, T. & Li, W. (2014). Increasing the complexity: new genes and new types of albinism. Pigment Cell & Melanoma Research 27, 1118.
Oetting, W. S. & King, R. A. (1999). Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. Human Mutation 13, 99115.
Opitz, S., Kasmann-Kellner, B., Kaufmann, M., Schwinger, E. & Zuhlke, C. (2004). Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism. Human Mutation 23, 630631.
Park, S. H., Chae, H., Kim, Y. & Kim, M. (2012). Molecular analysis of Korean patients with oculocutaneous albinism. Japanese Journal of Ophthalmology 56, 98103.
Preising, M. N., Forster, H., Gonser, M. & Lorenz, B. (2011). Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism. Molecular Vision 17, 939948.
Ray, K., Chaki, M. & Sengupta, M. (2007). Tyrosinase and ocular diseases: some novel thoughts on the molecular basis of oculocutaneous albinism type 1. Progress in Retinal and Eye Research 26, 323358.
Rinchik, E. M., Bultman, S. J., Horsthemke, B., Lee, S. T., Strunk, K. M., Spritz, R. A., Avidano, K. M., Jong, M. T. & Nicholls, R. D. (1993). A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature 361, 7276.
Rooryck, C., Morice-Picard, F., Elcioglu, N. H., Lacombe, D., Taieb, A. & Arveiler, B. (2008). Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1–4 genes and practical aspects. Pigment Cell & Melanoma Research 21, 583587.
Rosenmann, A., Bejarano-Achache, I., Eli, D., Maftsir, G., Mizrahi-Meissonnier, L. & Blumenfeld, A. (2009). Prenatal molecular diagnosis of oculocutaneous albinism (OCA) in a large cohort of Israeli families. Prenatal Diagnosis 29, 939946.
Shibahara, S., Tomita, Y., Tagami, H., Muller, R. M. & Cohen, T. (1988). Molecular basis for the heterogeneity of human tyrosinase. The Tohoku Journal of Experimental Medicine 156, 403414.
Simeonov, D. R., Wang, X., Wang, C., Sergeev, Y., Dolinska, M., Bower, M., Fischer, R., Winer, D., Dubrovsky, G., Balog, J. Z., Huizing, M., Hart, R., Zein, W. M., Gahl, W. A., Brooks, B. P. & Adams, D. R. (2013). DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics. Human Mutation 34, 827835.
Spritz, R. A. (1993). Molecular genetics of oculocutaneous albinism. Seminars in Dermatology 12, 167172.
Spritz, R. A., Oh, J., Fukai, K., Holmes, S. A., Ho, L., Chitayat, D., France, T. D., Musarella, M. A., Orlow, S. J., Schnur, R. E., Weleber, R. G. & Levin, A. V. (1997). Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1). Human Mutation 10, 171174.
Suzuki, T. & Tomita, Y. (2008). Recent advances in genetic analyses of oculocutaneous albinism types 2 and 4. Journal of Dermatological Science 51, 19.
Takeda, A., Tomita, Y., Okinaga, S., Tagami, H. & Shibahara, S. (1989). Functional analysis of the cDNA encoding human tyrosinase precursor. Biochemical and Biophysical Research Communications 162, 984990.
Tomita, Y., Takeda, A., Okinaga, S., Tagami, H. & Shibahara, S. (1989). Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene. Biochemical and Biophysical Research Communications 164, 990996.
Tsai, C. H., Tsai, F. J., Wu, J. Y., Lin, S. P., Chang, J. G., Yang, C. F., Lee, C. C. (1999). Insertion/deletion mutations of type I oculocutaneous albinism in chinese patients from Taiwan. Human Mutation 14, 542.
Wang, Y., Guo, X., Li, W. & Lian, S. (2009). Four novel mutations of TYR gene in Chinese OCA1 patients. Journal of Dermatological Science 53, 8081.
Wei, A., Wang, Y., Long, Y., Guo, X., Zhou, Z., Zhu, W., Zhu, W., Liu, J., Bian, X., Lian, S. & Li, W. (2010). A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism. The Journal of Investigative Dermatology 130, 716724.
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