Trinucleotide repeat elongation in the Huntingtin gene in Huntington disease patients from 71 Danish families

A Nørremølle; O Riess; J T Epplen; K Fenger; L Hasholt; S A Sørensen

doi:10.1093/hmg/2.9.1475

Trinucleotide repeat elongation in the Huntingtin gene in Huntington disease patients from 71 Danish families

Hum Mol Genet. 1993 Sep;2(9):1475-6. doi: 10.1093/hmg/2.9.1475.

Authors

A Nørremølle¹, O Riess, J T Epplen, K Fenger, L Hasholt, S A Sørensen

Affiliation

¹ Institute of Medical Biochemistry and Genetics, University of Copenhagen, Panum Institute, Denmark.

PMID: 8242074
DOI: 10.1093/hmg/2.9.1475

Abstract

IT15 is a novel gene, localized to chromosome 4, and encoding a protein named Huntingtin. A polymorphic CAG repeat in the proposed open reading frame of IT15 has been characterized, and an elongation of this repeat has been correlated to Huntington's Disease. We have investigated the CAG repeat in the Huntingtin gene in 71 unrelated Danish patients with Huntington's Disease, and found repeat lengths of 39 to 70 repeat units in contrast to 9 to 30 CAG's on normal chromosomes. Comparison of repeat length and age at onset of disease symptoms in 52 individuals indicates an inverse correlation between the age at onset and the number of CAG repeat units.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Adult
Age of Onset
Base Sequence
Chromosomes, Human, Pair 4
DNA Primers / genetics
Denmark
Humans
Huntingtin Protein
Huntington Disease / genetics*
Middle Aged
Molecular Sequence Data
Nerve Tissue Proteins
Nuclear Proteins
Oligodeoxyribonucleotides / genetics
Proteins / genetics*
Repetitive Sequences, Nucleic Acid*

Substances

DNA Primers
HTT protein, human
Huntingtin Protein
Nerve Tissue Proteins
Nuclear Proteins
Oligodeoxyribonucleotides
Proteins