Schwartz C E, Dean J, Howard-Peebles P N, Bugge M, Mikkelsen M, Tommerup N, Hull C, Hagerman R, Holden J J, Stevenson R E
Greenwood Genetic Center, South Carolina 29646.
Am J Med Genet. 1994 Jul 15;51(4):400-2. doi: 10.1002/ajmg.1320510419.
We have conducted a multicenter obstetrical and gynecological survey of women in fragile X families. Included in the study were 131 gene carriers (39 with a full mutation and 92 with a premutation) and 109 noncarriers. Analysis indicated that higher numbers of fragile X gene carriers reported having irregular menses and other gynecological complications. As a group they also experienced cessation of menses prior to age 40 years at a significantly higher rate. The data appear to indicate that the FMR1 gene may play a role in the development and proliferation of oogonia.
我们对脆性X综合征家族中的女性进行了一项多中心妇产科调查。该研究纳入了131名基因携带者（39名携带完全突变，92名携带前突变）和109名非携带者。分析表明，有更多的脆性X基因携带者报告有月经不规律和其他妇科并发症。作为一个群体，她们在40岁之前闭经的发生率也显著更高。数据似乎表明，FMR1基因可能在卵原细胞的发育和增殖中起作用。
