Doneda L, Basilisco G, Bianchi P, Larizza L
Department of Biology and Genetics, Medical Faculty, University of Milan, Italy.
Mutat Res. 1995 Sep;348(1):33-6. doi: 10.1016/0165-7992(95)90018-7.
Chromosomal aberration and micronucleus assays were used to investigate the extent of cytogenetic damage in peripheral blood lymphocytes from four patients in two unrelated families with hereditary megaduodenum. The frequencies of total chromosomal aberrations, which significantly correlated with those of micronuclei, were higher in the patients than in sex- and age-matched controls, with no overlapping between the two groups. The considerable chromosomal fragility in patients with hereditary megaduodenum may be a genotypic marker for preclinical diagnosis predictive of increased cancer risk.
采用染色体畸变分析和微核试验，研究了两个无亲缘关系的遗传性巨十二指肠家族中4例患者外周血淋巴细胞的细胞遗传学损伤程度。患者的总染色体畸变频率高于性别和年龄匹配的对照组，且与微核频率显著相关，两组之间无重叠。遗传性巨十二指肠患者存在明显的染色体脆性，这可能是预测癌症风险增加的临床前诊断的基因型标志物。
