Article
A Sau3A polymorphism in the 5' end of the IT15 gene that nonrandomly segregates with the Huntington disease trinucleotide expansion.
Human genetics - 1 Apr 1994
Carlock L, Gutridge K, Vo T
Abstract excerpt
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 1.8-kb and 2.7kb), which maps approximately 950bp from the TNR. Examination of a number of HD families established that the frequency of the Sau3A...
Topics
- Alleles
- Base Sequence
- DNA Primers
- Deoxyribonucleases, Type II Site-Specific
- Humans
- Huntingtin Protein
- Huntington Disease
- Molecular Sequence Data
- Nerve Tissue Proteins
- Nuclear Proteins
- Oligonucleotides