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Allele distribution at the FMR1 locus in the general Chinese population
Author(s) -
Chiang ShuChuan,
Lee YuMay,
Wang TsoRen,
Hwu WuhLiang
Publication year - 1999
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.1999.550509.x
Subject(s) - fmr1 , genetics , locus (genetics) , fragile x syndrome , allele , chinese population , biology , population , microsatellite , fragile x , tandem repeat , medicine , gene , genotype , genome , environmental health
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.