Allele distribution at the FMR1 locus in the general Chinese population
Authors: Chiang, Shu-Chuan1; Lee, Yu-May2; Wang, Tso-Ren1; Hwu, Wuh-Liang1
Source: Clinical Genetics, Volume 55, Number 5, May 1999 , pp. 353-356(4)
Publisher: Blackwell Publishing
Abstract:
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.Keywords: CGG repeat; Chinese; FMR1; fragile X syndrome
Document Type: Research article
DOI: 10.1034/j.1399-0004.1999.550509.x
Affiliations: 1: Department of Medical Genetics and Pediatrics, College of Medicine, National Taiwan University, 2: Institute of Biological Chemistry, Academia Sinica, Taiwan, Republic of China

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