ABSTRACT
OBJECTIVE: To clarify the pathogenicity-related genes and its mutations in an oculocutaneous albinism (OCA) patient from a consanguineous marriage family. METHODS: Polymerase chain reaction (PCR) and automatic DNA sequencing methods, chromosome walking by PCR amplification techniques (PCR-Walking), multiplex PCR in a single PCR tube with 3 primers bridging the breakpoint (Gap-PCR) and bioinformatic analysis were employed for screening the mutations and identifying the novel mutation in the patient and his family. RESULTS: A pathogenic deletion of 6365 bp was found in MATP gene with a range of c.562-1118 (± 2) to c.885 + 4923 (± 2). The patient was homozygous for deletion mutation. CONCLUSION: A large deletion mutation was first detected and identified in OCA4.