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A Sau3A polymorphism in the 5′ end of the IT15 gene that nonrandomly segregates with the Huntington disease trinucleotide expansion

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Abstract

Genomic clones encompassing the Huntington disease (HD) mutation were used to isolate a probe that detects size changes in the restriction fragments that contain the HD trinucleotide repeat (TNR). This probe also detects a frequent Sau3A polymorphism (allele sizes 1.8kb and 2.7kb), which maps approximately 950bp from the TNR. Examination of a number of HD families established that the frequency of the Sau3A alleles did not differ significantly between control and HD populations; however, the HD expansion was always present on a chromosome that contained the 1.8-kb Sau3A allele. This association between a specific allele and the HD TNR expansion was significant and could provide a clue to the chromosomal elements that produce the trinucleotide expansion on the Huntington disease chromosome.

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  1. Department of Molecular Biology and Genetics, Wayne State University, 48201, Detroit, MI, USA

    Leon Carlock, Kristin Gutridge & Trieu Vo

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  1. Leon Carlock
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  2. Kristin Gutridge
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  3. Trieu Vo
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Carlock, L., Gutridge, K. & Vo, T. A Sau3A polymorphism in the 5′ end of the IT15 gene that nonrandomly segregates with the Huntington disease trinucleotide expansion. Hum Genet 93, 457–459 (1994). https://doi.org/10.1007/BF00201675

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  • DOI: https://doi.org/10.1007/BF00201675

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