Korean J Ophthalmol.  2002 Dec;16(2):93-96. 10.3341/kjo.2002.16.2.93.

Mutations of the Norrie gene in Korean ROP infants

• Kim JH
• Yu YS
• Kim J
• Park SS

• KMID: 754328
• DOI: http://doi.org/10.3341/kjo.2002.16.2.93

Abstract

The present study was conducted to evaluate if there is a Norrie disease gene (ND gene) mutation involved in the retinopathy of prematurity (ROP), and to identify the possibility of a genetic abnormality that may be linked to the presence of ROP. Nineteen premature Korean infants, with a low birth weight (1500 g or less) or low gestational age (32 weeks or less), were included in the study. Eighteen infants had ROP, and the other did not. Genomic DNA was isolated from the peripheral blood leukocytes of these patients, and all three exons and their flanking areas, all known ND gene mutations regions, were evaluated following amplification by a polymerase chain reaction, but no ND gene mutations were detected. Any disagreement between the relationship of ROP to the ND gene mutation will need to be clarified by further investigation.

Keyword

Korean; mutation; Norrie gene; retinopathy of prematurity

MeSH Terms

DNA Mutational Analysis
Eye Proteins/*genetics
Female
Human
Infant, Low Birth Weight
Infant, Newborn
*Infant, Premature
Korea/epidemiology
Male
*Mutation
Nerve Tissue Proteins/*genetics
Polymerase Chain Reaction
Retinopathy of Prematurity/ethnology/*genetics
Support, Non-U.S. Gov't