Klinefelter综合征患者和双亲对诱变剂敏感性研究

Study on sensitivity in Klinefelter syndrome pa tients and parents for mutagens.

为了解诱变剂对Ｋｌｉｎｅｆｅｌｔｅｒ综合征发生的影响，对Ｋｌｉｎｅｆｅｌｔｅｒ综合征患者、患者双亲及对照进行丝裂霉素Ｃ、乙醛或乙醇诱导非二倍体、染色体结构畸变及微核观察，发现丝裂霉素Ｃ诱导的患者染色体结构畸变和微核均显著多于对照和双亲。乙醛和乙醇能诱导非二倍体和微核增加，但患者和双亲增加的程度极显著高于对照。提示Ｋｌｉｎｅｆｅｌｔｅｒ综合征患者对于丝裂霉素Ｃ、乙醛和乙醇诱导染色体畸变更敏感。双亲对乙醛和乙醇诱变敏感性高则表明易感人群饮酒可导致本病发生。

Chromosome aberration and micronucleuswere determined by mitomycin C (MMC) 、acetic aldehyde (AA) or ethanol (EtOH) inducing in 36 cases of Klinefelter syndrome, their 56 parents and 45 controls. The results showed that rates of chromosome aberration and micronucleus induced by MMC in patients were significantly higher than those in parents and controls, rates of non-diploid and micronucleus induced by AA and EtOH in pa-tients and parents were significantly higher than those in controls. It suggested that patients were sensitive for mutagents, and parents sensitivity was one of factors for disease forming.