The CAG expansion responsible for Huntington's disease (HD) is followed by an adjacent polymorphic CCG repeat region which may interfere with a PCR based diagnosis. We have sequenced this region in 52 unrelated HD patients, from both normal and HD chromosomes. Fifty percent of the normal alleles were (CCG)7(CCT)2, 48% (CCG)10(CCT)2, and 2% (CCG)7(CCT)3. In contrast (CCG)7(CCT)2 was found in 85% of the HD alleles which represents significant linkage disequilibrium with the HD mutation.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1050439 | PMC |
| http://dx.doi.org/10.1136/jmg.32.5.399 | DOI Listing |
Publication Analysis
Top Keywords
normal chromosomes
8
sequence analysis
4
analysis ccg
4
ccg polymorphic
4
polymorphic region
4
region adjacent
4
adjacent cag
4
cag triplet
4
triplet repeat
4
repeat gene
4
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!