https://scholars.lib.ntu.edu.tw/handle/123456789/526089
標題: | Allele distribution at the FMR1 locus in the general Chinese population | 作者: | Chiang S.-C. Lee Y.-M. Wang T.-R. WUH-LIANG HWU |
關鍵字: | CGG repeat; Chinese FMR1; Fragile X syndrome | 公開日期: | 1999 | 出版社: | Blackwell Munksgaard | 卷: | 55 | 期: | 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: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-0033020995&doi=10.1034%2fj.1399-0004.1999.550509.x&partnerID=40&md5=f48a00d7bb59bfa07f5d908ff8eb5da0 https://scholars.lib.ntu.edu.tw/handle/123456789/526089 |
ISSN: | 0009-9163 | DOI: | 10.1034/j.1399-0004.1999.550509.x | SDG/關鍵字: | article; blood; Chinese; controlled study; fragile X syndrome; gene frequency; gene locus; genetic risk; human; human cell; major clinical study; male; mental deficiency; newborn; newborn screening; nucleotide repeat; population genetics; priority journal |
顯示於: | 醫學系 |
在 IR 系統中的文件,除了特別指名其著作權條款之外,均受到著作權保護,並且保留所有的權利。