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Background  Oculocutaneous albinism (OCA) is an autosomal recessive disorder. The most common type OCA1 and OCA2 are caused by homozygous or compound heterozygous mutations in the tyrosinase gene ( TYR ) and  OCA2  gene, respectively.    Objective  The purpose of this study was to evaluate the molecular basis of oculocutaneous albinism in four Chinese families.    Patients and Methods  Four non-consanguineous OCA families were included in the study. The  TYR  and  OCA2  genes of all individuals were amplified by polymerase chain reaction (PCR), sequenced and compared with a reference database.    Results  Four patients with a diagnosis of oculocutaneous albinism, presented with milky skin, white or light brown hair and nystagmus. Genetic analyses demonstrated that patient A was compound heterozygous for c.1037-7T.A, c.1037-10_11delTT and c.1114delG mutations in the  TYR  gene; patient B was heterozygous for c.593C>T and c.1426A>G mutations in the  OCA2  gene, patients C and D were compound heterozygous mutations in the  TYR  gene (c.549_550delGT and c.896G>A, c.832C>T and c.985T>C, respectively). The heterozygous c.549_550delGT and c.1114delG alleles in the  TYR  gene were two novel mutations. Interestingly, heterozygous members in these pedigrees who carried c.1114delG mutations in the  TYR  gene or c.1426A>G mutations in the  OCA2  gene presented with blond or brown hair and pale skin, but no ocular disorders when they were born; the skin of these patients accumulated pigment over time and with sun exposure.    Conclusion  This study expands the mutation spectrum of oculocutaneous albinism. It is the first time, to the best of our knowledge, to report that c.549_550delGT and c.1114delG mutations in the  TYR  gene were associated with OCA. The two mutations (c.1114delG in the  TYR  gene and c.1426A>G in the  OCA2  gene) may be responsible for partial clinical manifestations of OCA.

Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism