May K M, Jacobs P A, Lee M, Ratcliffe S, Robinson A, Nielsen J, Hassold T J
Division of Medical Genetics, Emory University, Atlanta, GA 30322.
Am J Hum Genet. 1990 Apr;46(4):754-61.
We used X-linked DNA polymorphisms to study the parental origin of X chromosome nondisjunction in 28 47,XXX live-born females. Errors in oogenesis accounted for 26 of the cases, with the majority of these being attributable to an error at meiosis I. We observed an association between advanced parental age and meiosis I nondisjunction--but not meiosis II nondisjunction--in the maternally derived cases. In studies of recombination we found little evidence for an association between pairing failure and X chromosome nondisjunction, but our results suggest that increased recombination near the centromere may play a role in the etiology of the 47,XXX condition.
我们利用X连锁DNA多态性研究了28名47,XXX活产女性中X染色体不分离的亲本来源。28例病例中有26例卵子发生错误,其中大多数归因于减数分裂I期的错误。在母源病例中,我们观察到父母年龄较大与减数分裂I期不分离之间存在关联,但与减数分裂II期不分离无关。在重组研究中,我们几乎没有发现配对失败与X染色体不分离之间存在关联的证据,但我们的结果表明,着丝粒附近重组增加可能在47,XXX病症的病因学中起作用。