Sequence-based diagnosis of tyrosinase-related oculocutaneous albinism: successful sequence analysis of the tyrosinase gene from blood spots dried on filter paper.
BACKGROUND
A large number of mutations of the tyrosinase gene result in oculocutaneous albinism (OCA). Therefore, at present, sequence analysis of the tyrosinase gene has become necessary to diagnose OCA patients and their relatives.


OBJECTIVE
The aim of this study was to facilitate the sequence-based diagnosis of tyrosinase-related OCA by using small amounts of the patient's blood.


METHODS
Blood spots dried on filter papers were used as sources of genomic DNA. The exons and flanking regions of the tyrosinase gene were amplified by polymerase chain reaction (PCR) and were directly sequenced in both directions.


RESULTS
We successfully amplified all exons of the tyrosinase gene by PCR and were able to characterize compound heterozygous mutations of R278X and + delta C310 in the patient's gene.


CONCLUSIONS
Recent advances of PCR-related technology allowed us to use fairly limited samples of blood for sequence analysis of the tyrosinase gene.
Matsunaga
J
J
Department of Dermatology, Akita University School of Medicine, Japan.
Dakeishi-Hara
M
M
Miyamura
Y
Y
Nakamura
E
E
Tanita
M
M
Satomura
K
K
Tomita
Y
Y
D016115:Albinism, Oculocutaneous / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics*; D001483:Base Sequence; D001800:Blood Specimen Collection; D004247:DNA / Q000097:blood / Q000235:genetics; D004252:DNA Mutational Analysis; D005190:Family; D005192:Family Health; D005260:Female; D005796:Genes / Q000235:genetics; D005838:Genotype; D006801:Humans; D014442:Monophenol Monooxygenase / Q000097:blood / Q000235:genetics; D009154:Mutation / Q000235:genetics; D017422:Sequence Analysis, DNA; D012689:Sequence Homology, Nucleic Acid
D004247:DNA; D014442:Monophenol Monooxygenase