https://scholars.lib.ntu.edu.tw/handle/123456789/194888
標題: | Allele Distribution at the Fmr1 Locus in the General Chinese Population | 作者: | Chiang, Shu-Chuan Lee, Yu-May Wang, Tso-Ren Hwu, Wuh-Liang |
關鍵字: | CGG repeat;Chinese;FMR1;fragile X syndrome;FRAGILE-X-SYNDROME;CGG REPEAT | 公開日期: | 1999 | 卷: | v.55 | 期: | n.5 | 起(迄)頁: | 352-355 | 來源出版物: | CLINICAL GENETICS | 摘要: | Fragile X syndrome is an important disease of hereditary mental retardation. Its prevalence in the Chinese population is not clear. We amplified FMR1 CGG repeats from male newborns' blood spots. Approximately 45% of the males had 28 CGG repeats and another 19% had 29 repeats. Besides this major peak, there was a second peak at 34 and 35 repeats. From the 1000 males studied, 3 were found to have repeat numbers in the high borderline range (each with 50, 52 and 53 repeats). This result provides a low but significant risk of fragile X syndrome in the Chinese population. |
URI: | http://ntur.lib.ntu.edu.tw//handle/246246/94780 |
顯示於: | 醫學系 |
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