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Allele distribution at the FMR1 locus in the general Chinese population
S C Chiang1, Y M Lee, T R Wang
1Department of Medical Genetics and Pediatrics, College of Medicine, National Taiwan University, Taipei, Republic of China.
Clinical Genetics
|July 28, 1999
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.