Chudley A E, Ray M, Evans J A, Cheang M
Section of Clinical Genetics, Children's Hospital, Winnipeg, Manitoba, Canada.
Clin Genet. 1990 Oct;38(4):241-56. doi: 10.1111/j.1399-0004.1990.tb03577.x.
The expression of folate sensitive fragile sites (FS) was assessed in cord blood lymphocyte cultures obtained from 790 newborns (NB) and in peripheral blood lymphocyte cultures from 326 institutionalized mentally retarded residents (MR). The mean rate of expression of common FS and the occurrence of rare FS was significantly higher in the MR population. Age, sex and history of chronic medication use did not appear to influence common FS expression in the MR population, 3/790 (0.38%) NB and 5/326 (1.53%) MR exhibited rare autosomal folate sensitive FS, a 4-fold difference in incidence (P = 0.009, Poisson test). Four of the five MR who expressed rare FS were considered to have idiopathic MR (4/179 or 2.2%). The occurrence of rare FS in 1/147 (0.68%) MR with known etiology is not significantly different from the frequency of occurrence in the NB population (P = 0.428, Poisson test). In this population, rare FS appear to be overrepresented in the idiopathic etiology MR group.
在从790名新生儿（NB）获取的脐血淋巴细胞培养物以及326名机构收容的智力发育迟缓者（MR）的外周血淋巴细胞培养物中，评估了叶酸敏感脆性位点（FS）的表达情况。MR群体中常见FS的平均表达率和罕见FS的发生率显著更高。年龄、性别和长期用药史似乎并未影响MR群体中常见FS的表达，790名NB中有3名（0.38%）、326名MR中有5名（1.53%）表现出罕见的常染色体叶酸敏感FS，发病率相差4倍（泊松检验，P = 0.009）。表达罕见FS的5名MR中有4名被认为患有特发性MR（4/179或2.2%）。147名病因已知的MR中有1名（0.68%）出现罕见FS，与NB群体中的发生率无显著差异（泊松检验，P = 0.428）。在该群体中，罕见FS在特发性病因的MR组中似乎比例过高。
