title: Allele distribution at the FMR1 locus in the general Chinese population.
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.
authors.affiliation: Department of Medical Genetics and Pediatrics, College of Medicine, National Taiwan University, Taipei, Republic of China.
authors.forename: S C
authors.initials: SC
authors.lastname: Chiang
authors.forename: Y M
authors.initials: YM
authors.lastname: Lee
authors.forename: T R
authors.initials: TR
authors.lastname: Wang
authors.forename: W L
authors.initials: WL
authors.lastname: Hwu
mesh_terms: D000483:Alleles; D002681:China / Q000208:ethnology; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000208:ethnology / Q000235:genetics*; D005787:Gene Frequency; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D016601:RNA-Binding Proteins; D013624:Taiwan; D018911:Trinucleotide Repeats
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human