Mutations of the Norrie gene in Korean ROP infants

• 발행기관: 대한안과학회
• 저자명: Jeong Hun Kim Young Suk Yu Jiyeon Kim Seong Sup Park
• 간행물 정보: 『The Korean Journal of Ophthalmology』Vol.16 No.2, 93~96쪽, 전체 4쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2002.12.30

영문 초록

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.

목차

Abstract

INTRODUCTION

MATERIALS AND METHODS

RESULTS

DISCUSSION

REFERENCES

키워드

Korean mutation Norrie gene retinopathy of prematurity