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Human Molecular Genetics Pages 2005-2010

Rethinking genotype and phenotype correlations in polyglutamine expansion disorders
Introduction
   CAG Size Ranges Associated With Disease
   Penetrance, Individuality And Disease
   Intermediate Alleles
   Gaps, Lifespan, Rules And Exceptions
Acknowledgements
References

Rethinking genotype and phenotype correlations in polyglutamine expansion disorders

Rethinking genotype and phenotype correlations in polyglutamine expansion disorders Susan E. Andrew1, Y. Paul Goldberg2 and Michael R. Hayden1,2,*

1Centre for Molecular Medicine and Therapeutics, and 2Department of Medical Genetics, 416-2125 East Mall, Vancouver, B.C., Canada

Received August 11, 1997; Revised and Accepted August 27, 1997

INTRODUCTION

Disorders caused by triplet expansions present unique challenges for understanding and correlating the genotype with the clinical phenotype. Currently, there is some confusion over ranges for normal and disease alleles and regarding understanding of penetrance and intermediate alleles. Various centres have adopted different definitions, resulting in varying interpretations of allele sizes and their relationship to phenotype by a particular age. Furthermore, the observation in some trinucleotide repeat (TNR) . . . [Full Text of this Article]

CAG SIZE RANGES ASSOCIATED WITH DISEASE

PENETRANCE, INDIVIDUALITY AND DISEASE

INTERMEDIATE ALLELES

GAPS, LIFESPAN, RULES AND EXCEPTIONS

ACKNOWLEDGEMENTS

REFERENCES


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