J Korean Neurol Assoc > Volume 19(5); 2001 > Article

Journal of the Korean Neurological Association 2001;19(5): 509-513.

혈관 확장성 운동실조증 환자 말초 림프구의 In-Vitro 방사선 조사 후 염색체 분석

김중석, 이지연 ·박성경 ·김영인 ·송문영*·최병옥

가톨릭대학교 의과대학 신경과학교실,소아과학교실*,치료방사선과학교실

"Chromosomal Assay after In-vitro Irradiation of Lymphocytes in Ataxia Telangiectasia"

"Joong-Seok Kim, M.D., Jee-Yeon Lee, M.D., Soung-Kyeong Park, M.D., Yeong-In Kim, M.D., Moon-Young Song, M.D.*, Byung-Ok Choi, M.D. †"

"Department of Neurology, Pediatrics*, and Radiation Oncology † , College of Medicine, The Catholic University of Korea"

Abstract

"Background : Hypersensitivity to both cell-killing and chromosome-damaging effects of ionizing radiation is a con-sistent feature of cells from individuals with ataxia-telangiectasia (AT). This radiobiological behavior of AT cells is a component of genetic instability and may contribute to cancer risk. Also, heterozygotes for AT-mutated (ATM) genes have no clinical expressions of AT, but may become cancer prone with a moderate increase in in-vitro radiosensitivity. Methods : We performed a chromosomal analysis on lymphocytes from 3 AT patients, 5 obligate AT carriers (siblings and parents of the patients), and 5 normal controls. Results : Increases in chromosomal breakages after irradiation with 1 gray/min in cells from AT patients ranged from 0.65 to 0.83 rearrangements per metaphase, while in the carriers and controls the levels of breakage were between 0 and 0.15 per metaphase cells (P<0.05). Conclusions : These results are consistent with previously reported chromosomal radiosensitivity in AT patients. However, carriers do not show moder-ate radiosensitivity due to various technical factors such as the dose or distance of radiation. Although this research has some limitations due to the small numbers of patients, carriers and controls, this method may be an easy and useful diagnostic tool for AT patients in Korea. J Korean Neurol Assoc 19(5):509~513, 2001 Key Words : Ataxia telangiectasia, Radiation tolerance, Chromosome"