山梨医科大学雑誌 第5巻1号 019-023(1990)

X-ray induced Sister Chromatid Exchange and Chromosomal
Aberrations in the Lymphocytes from the Patients with
Neurofibromatosis

Hitoshi HOSHINO, Tatsuya TAKESHITA, Sumio IIJIMA, Akio ASAKA,
Masaya SEGAWA, and Makoto HIGURASHI

Abstract: Neurofibromatosis (NF), an autosomal dominant disease, is diagnosed by the presence of more than 6 Cafe-au-lait spots and neurofibromas in late childhood or adolescence. We examined the frequencies of sister chromatid exchange (SCE) and chromosomal aberrations (dicentrics and rings) in cultured lymphocytes from patients with NF and normal controls after X-ray irradiation at doses of 2.5, 5.0 and 7.5 Gy. No differences in the baseline SCE frequencies were found between the NF patients and controls. The frequency of SCE increased with the irradiation dose in both patients and controls with no apparent differences between the two groups. In addition, the frequencies of spontaneous and X-ray induced chromosomal aberrations in the patients were not significantly different from those in the controls. The presence of genetic heterogeneity causing NF was suggested.

Key words: Neurofibromatosis, sister chromatid exchange, chromosomal aberrations




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