Document Detail

A Sau3A polymorphism in the 5' end of the IT15 gene that nonrandomly segregates with the Huntington disease trinucleotide expansion.
MedLine Citation:
PMID:  7909529     Owner:  NLM     Status:  MEDLINE    
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 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.
L Carlock; K Gutridge; T Vo
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Human genetics     Volume:  93     ISSN:  0340-6717     ISO Abbreviation:  Hum. Genet.     Publication Date:  1994 Apr 
Date Detail:
Created Date:  1994-06-01     Completed Date:  1994-06-01     Revised Date:  2012-07-11    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  457-9     Citation Subset:  IM    
Department of Molecular Biology and Genetics, Wayne State University, Detroit, MI 48201.
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MeSH Terms
Base Sequence
DNA Primers
Deoxyribonucleases, Type II Site-Specific
Huntington Disease / genetics*
Molecular Sequence Data
Nerve Tissue Proteins
Nuclear Proteins
Oligonucleotides / genetics*
Polymorphism, Restriction Fragment Length*
Proteins / genetics*
Grant Support
Reg. No./Substance:
0/DNA Primers; 0/HTT protein, human; 0/Nerve Tissue Proteins; 0/Nuclear Proteins; 0/Oligonucleotides; 0/Proteins; EC, Type II Site-Specific; EC type II deoxyribonucleases

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