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

Published online by Cambridge University Press:  17 May 2001

Sultana M. H. FARADZ ,
J. LEGGO ,
A. MURRAY ,
P. R. L. LAM-PO-TANG ,
M. F. BUCKLEY  and
J. J. A. HOLDEN
Sultana M. H. FARADZ
Affiliation:
Molecular and Cytogenetics Unit, Dept of Haematology, Prince of Wales Hospital, Sydney, NSW 2031, Australia Molecular and Cytogenetics Unit, Laboratory of Biotechnology, Faculty of Medicine Diponegoro University, Semarang, Indonesia
J. LEGGO
Affiliation:
Cytogenetics & DNA Research Laboratory, Ongwanada Resource Centre and Dept of Psychiatry, Queen's University, Kingston, Canada
A. MURRAY
Affiliation:
Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire SP2 8BJ, UK
P. R. L. LAM-PO-TANG
Affiliation:
Molecular and Cytogenetics Unit, Dept of Haematology, Prince of Wales Hospital, Sydney, NSW 2031, Australia
M. F. BUCKLEY
Affiliation:
Molecular and Cytogenetics Unit, Dept of Haematology, Prince of Wales Hospital, Sydney, NSW 2031, Australia School of Pathology, University of New South Wales, Sydney, Australia
J. J. A. HOLDEN
Affiliation:
Cytogenetics & DNA Research Laboratory, Ongwanada Resource Centre and Dept of Psychiatry, Queen's University, Kingston, Canada
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Abstract

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.

Type
Research Article
Information
Annals of Human Genetics , Volume 65 , Issue 2 , March 2001 , pp. 127 - 135
Copyright
University College London 2001

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