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Predictive testing for Huntington disease: interpretation and significance of intermediate alleles

Predictive testing for Huntington disease: interpretation and significance of intermediate alleles Semaka A, Creighton S, Warby S, Hayden MR. Predictive testing for Huntington disease: interpretation and significance of intermediate alleles.Clin Genet 2006: 70: 283–294. © Blackwell Munksgaard, 2006Direct mutation analysis for Huntington disease (HD) became possible in 1993 with the identification of an expanded CAG trinucleotide repeat as the mutation underlying the disease. Expansion of CAG length beyond 35 repeats may be associated with the clinical presentation of HD. HD has never been seen in a person with a CAG size of <36 repeats. Intermediate alleles are defined as being below the affected CAG range but have the potential to expand to >35 CAG repeats within one generation. Thus, children of intermediate allele carriers have a low risk of developing HD. Currently, the intermediate allele range for HD is between 27 and 35 CAG repeats. In this study, we review the current knowledge on intermediate alleles for HD including the CAG repeat range, the intermediate allele frequency, and the clinical implications of an intermediate allele predictive test result. The factors influencing CAG repeat expansion, including the CAG size of the intermediate allele, the sex and age of the transmitting parent, the family history, and the HD gene sequence and haplotype, will also be reviewed. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Clinical Genetics Wiley

Predictive testing for Huntington disease: interpretation and significance of intermediate alleles

Clinical Genetics , Volume 70 (4) – Oct 1, 2006

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References (74)

Publisher
Wiley
Copyright
2006 The Authors Journal compilation
ISSN
0009-9163
eISSN
1399-0004
DOI
10.1111/j.1399-0004.2006.00668.x
pmid
16965319
Publisher site
See Article on Publisher Site

Abstract

Semaka A, Creighton S, Warby S, Hayden MR. Predictive testing for Huntington disease: interpretation and significance of intermediate alleles.Clin Genet 2006: 70: 283–294. © Blackwell Munksgaard, 2006Direct mutation analysis for Huntington disease (HD) became possible in 1993 with the identification of an expanded CAG trinucleotide repeat as the mutation underlying the disease. Expansion of CAG length beyond 35 repeats may be associated with the clinical presentation of HD. HD has never been seen in a person with a CAG size of <36 repeats. Intermediate alleles are defined as being below the affected CAG range but have the potential to expand to >35 CAG repeats within one generation. Thus, children of intermediate allele carriers have a low risk of developing HD. Currently, the intermediate allele range for HD is between 27 and 35 CAG repeats. In this study, we review the current knowledge on intermediate alleles for HD including the CAG repeat range, the intermediate allele frequency, and the clinical implications of an intermediate allele predictive test result. The factors influencing CAG repeat expansion, including the CAG size of the intermediate allele, the sex and age of the transmitting parent, the family history, and the HD gene sequence and haplotype, will also be reviewed.

Journal

Clinical GeneticsWiley

Published: Oct 1, 2006

Keywords: CAG repeat instability; genetic counselling; Huntington disease; intermediate alleles; predictive testing; psychosocial consequences; risk assessment; risk estimates

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