Ann Dermatol.  1997 Jul;9(3):182-187. 10.5021/ad.1997.9.3.182.

Molecular Analysis of Oculocutaneous Albinism Patients in Korea

Abstract

BACKGROUND
Oculocutaneous albinism (OCA) is a genetic disorder of the melanin pigment system in which melanin synthesis is reduced or absent in the skin, hair, and eyes. OCA is classified into two major types, and tyrosinase-related OCA can be produced by mutations of the structural gene for tyrosinase enzyme (TYR gene).
OBJECTIVE
The purpose of this study was to analyze the segregation of mutant alleles of the TYR gene in tyrosinase-negative and tyrosinase-positive Korean OCA patients and families.
METHODS
We amplified exon I, II, and III of the TYR gene of Korean OCA patients and their families by polymerase chain reactions (PCR), and analyzed the mutations by restriction fragment length polymorphism (RFLP) analysis in exon I and single-strand conformation polymorphism (SSCP) analyses in exon II and exon III.
RESULTS
Two tyrosinase-negative cases showed mutations in exon I. Four tyrosinase-nega-tive cases and one tyrosinase-positive case showed mutations in exon II, and one tyrosinase-neg- ative case showed mutations in exon III. In summary, we found three kinds of mutation in four tyrosinase-negative OCA patients and one tyrsinase-positive OCA patient.
CONCLUSIONS
RFLP and SSCP analysis can provide a basis for a rapid and sensitive screening system to detect TYR gene mutations of Korean OCA patients and their families.

Keyword

Oculocutaneous Albinism (OCA); Polymerase Chain Reaction (PCR); Fragment Length Polymorphism(RFLP); Single-strand Conformation Polymorphism(SSCP)

MeSH Terms

Albinism, Oculocutaneous*
Alleles
Exons
Hair
Humans
Korea*
Mass Screening
Melanins
Monophenol Monooxygenase
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Polymorphism, Single-Stranded Conformational
Skin
Melanins
Monophenol Monooxygenase
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