Distribution of FMR1 and FMR2 alleles in Javanese individuals with developmental disability and confirmation of a specific AGG-interruption pattern in Asian populations

Ann Hum Genet. 2001 Mar;65(Pt 2):127-35. doi: 10.1017/S0003480001008521.


The number of trinucleotide repeats in the 5' untranslated regions of the FMR1 and FMR2 genes was determined by PCR in 254 Fragile XA-negative Javanese male children with developmental disabilities. The distribution of FMR1 and FMR2 trinucleotide repeat alleles was found to be significantly different in the Indonesian population with developmental disability compared to that in developmentally disabled populations in North America and Europe (p & 0.021). Sequence analysis was performed on the trinucleotide repeat arrays of the 27 individuals with FMR1 alleles in the 'grey zone' (35-54 repeats). A repeat array structure of 9A9A6A9 was found in 16 unrelated individuals with 36 repeats, confirming earlier observations in intellectually normal Japanese. We propose that this FMR1 array pattern is specific for Asian populations and that Javanese and Japanese populations arose from a single progenitor population.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Asians / genetics*
  • Child
  • Developmental Disabilities / epidemiology
  • Developmental Disabilities / genetics*
  • Evolution, Molecular
  • Fragile X Mental Retardation Protein
  • Fragile X Syndrome / epidemiology
  • Fragile X Syndrome / genetics
  • Gene Frequency*
  • Haplotypes
  • Humans
  • Indonesia / epidemiology
  • Male
  • Nerve Tissue Proteins / genetics*
  • Nuclear Proteins*
  • Proteins / genetics*
  • RNA-Binding Proteins*
  • Sequence Analysis, DNA
  • Statistics, Nonparametric
  • Trans-Activators*
  • Trinucleotide Repeats*


  • AFF2 protein, human
  • FMR1 protein, human
  • Nerve Tissue Proteins
  • Nuclear Proteins
  • Proteins
  • RNA-Binding Proteins
  • Trans-Activators
  • Fragile X Mental Retardation Protein