Document Detail


Distribution of FMR1 and FMR2 alleles in Javanese individuals with developmental disability and confirmation of a specific AGG-interruption pattern in Asian populations.
MedLine Citation:
PMID:  11427173     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
S M Faradz; J Leggo; A Murray; P R Lam-Po-Tang; M F Buckley; J J Holden
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Annals of human genetics     Volume:  65     ISSN:  0003-4800     ISO Abbreviation:  Ann. Hum. Genet.     Publication Date:  2001 Mar 
Date Detail:
Created Date:  2001-06-27     Completed Date:  2001-09-06     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0416661     Medline TA:  Ann Hum Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  127-35     Citation Subset:  IM    
Affiliation:
Molecular and Cytogenetics Unit, Dept of Haematology, Prince of Wales Hospital, Sidney, Australia.
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MeSH Terms
Descriptor/Qualifier:
Alleles
Asian Continental Ancestry Group / genetics*
Child
Developmental Disabilities / epidemiology,  genetics*
Evolution, Molecular
Fragile X Mental Retardation Protein
Fragile X Syndrome / epidemiology,  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*
Chemical
Reg. No./Substance:
0/AFF2 protein, human; 0/FMR1 protein, human; 0/Nerve Tissue Proteins; 0/Nuclear Proteins; 0/Proteins; 0/RNA-Binding Proteins; 0/Trans-Activators; 139135-51-6/Fragile X Mental Retardation Protein

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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