Laboratory of Medical Genetics, Cheil General Hospital and Women's Healthcare Center, Seoul, Korea.
J Med Screen. 2013 Mar;20(1):15-20. doi: 10.1177/0969141313488364. Epub 2013 May 13.
To estimate the distribution of the FMR1 alleles and the prevalence of the premutaion (PM) and full mutation (FM) of the FMR1 gene in Korean women of reproductive age.
Using polymerase chain reaction and Southern blot, 5829 women of reproductive age were screened (low-risk group n = 5470 and high-risk group n = 359) and 11 prenatal diagnoses were completed between September 2003 and December 2011.
Of the 5829 women screened, normal FMR1 alleles (11,607) had a bimodal distribution with most alleles having 29 (37.87%) and 30 (31.87%) CGG repeats. Of the 5470 women in the low-risk group, 7 PM were identified, giving a PM carrier frequency of 1:781; none of the women had Fragile X syndrome. We also identified 38 intermediate alleles, with a reported incidence of 1:143. Of the 11 prenatal diagnoses, five were normal, five had a premutation, and one had a full mutation allele.
The carrier frequency is 1/781 (0.13%) in Korean women of reproductive age. This is lower than among Caucasians, but relatively higher than in other Asian populations. Although there may be a founder effect, these results might be valuable in understanding Fragile X syndrome in Koreans and Asians as a whole.
估计 FMR1 等位基因在韩国育龄妇女中的分布情况，以及 FMR1 基因前突变（PM）和完全突变（FM）的流行率。
使用聚合酶链反应和 Southern 印迹法，对 5829 名育龄妇女（低危组 n=5470，高危组 n=359）进行了筛查，并于 2003 年 9 月至 2011 年 12 月期间完成了 11 例产前诊断。
在筛查的 5829 名妇女中，正常 FMR1 等位基因（11607）呈双峰分布，大多数等位基因的 CGG 重复次数为 29（37.87%）和 30（31.87%）。在低危组的 5470 名妇女中，发现了 7 例 PM，PM 携带者频率为 1：781；没有妇女患有脆性 X 综合征。我们还发现了 38 例中间等位基因，其发病率为 1：143。在 11 例产前诊断中，5 例正常，5 例为前突变，1 例为完全突变等位基因。
韩国育龄妇女的携带者频率为 1/781（0.13%）。这低于白种人，但相对高于其他亚洲人群。尽管可能存在奠基者效应，但这些结果对于了解脆性 X 综合征在韩国人和整个亚洲人中的情况可能具有重要意义。
