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FMR1 alleles in Tasmania: a screening study of the special educational needs population


Mitchell, RJ and Holden, JJA and Zhang, C and Curlis, Y and Slater, HR and Burgess, T and Kirkby, KC and Carmichael, A and Heading, KD and Loesch, DZ, FMR1 alleles in Tasmania: a screening study of the special educational needs population, Clinical Genetics: An International Journal of Genetics and Molecular Medicine, 67, (1) pp. 38-46. ISSN 0009-9163 (2005) [Refereed Article]

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DOI: doi:10.1111/j.1399-0004.2004.00344.x


The distribution of fragile X mental retardation-1 (FMR1) allele categories, classified by the number of CGG repeats, in the population of Tasmania was investigated in 1253 males with special educational needs (SEN). The frequencies of these FMR1 categories were compared with those seen in controls as represented by 578 consecutive male births. The initial screening was based on polymerase chain reaction analysis of dried blood spots. Inconclusive results were verified by Southern analysis of a venous blood sample. The frequencies of common FMR1 alleles in both samples, and of grey zone alleles in the controls, were similar to those in other Caucasian populations. Consistent with earlier reports, we found some (although insignificant) increase of grey zone alleles in SEN subjects compared with controls. The frequencies of predisposing flanking haplotypes among grey zone males FMR1 alleles were similar to those seen in other Caucasian SEN samples. Contrary to expectation, given the normal frequency of grey zone alleles, no premutation (PM) or full mutation (FM) allele was detected in either sample, with only 15 fragile X families diagnosed through routine clinical admissions registered in Tasmania up to 2002. An explanation of this discrepancy could be that the C19th founders of Tasmania carried few PM or FM alleles. The eight to ten generations since white settlement of Tasmania has been insufficient time for susceptible grey zone alleles to evolve into the larger expansions.

Item Details

Item Type:Refereed Article
Research Division:Health Sciences
Research Group:Health services and systems
Research Field:Mental health services
Objective Division:Health
Objective Group:Public health (excl. specific population health)
Objective Field:Mental health
UTAS Author:Kirkby, KC (Professor Kenneth Kirkby)
UTAS Author:Carmichael, A (Professor Allan Carmichael)
UTAS Author:Heading, KD (Ms Katharine Heading)
ID Code:41458
Year Published:2005
Web of Science® Times Cited:15
Deposited By:Psychiatry
Deposited On:2007-01-18
Last Modified:2020-01-02

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