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Intergeneration CAG expansion and contraction in a Chinese HD family.
- Source :
-
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics [Am J Med Genet B Neuropsychiatr Genet] 2006 Apr 05; Vol. 141B (3), pp. 242-4. - Publication Year :
- 2006
-
Abstract
- The prevalence of juvenile-onset Huntington's disease (HD) is about ten times lower than adult HD. Here we report a Chinese HD family showing both intergeneration CAG expansion and contraction. The expansion resulted from a paternal transmission which leads to juvenile-onset HD for a 17-year-old Chinese boy (III-5). More interestingly, a contraction was noticed in a maternal transmission (III-3), which changed the CAG repeat from an expanded, disease-causing allele (48 repeats) to a normal or intermediate allele (34 repeats). Of note, the contraction resulted in a deletion of 14 CAG repeats, which is much larger than previously reported contractions. Our results are consistent with previous observations in Western Caucasians that juvenile-onset HD is more likely inherited through the male germline.<br /> (Copyright 2006 Wiley-Liss, Inc.)
- Subjects :
- Adolescent
Adult
Alleles
China
Family Health
Female
Genotype
Humans
Huntingtin Protein
Inheritance Patterns
Male
Middle Aged
Pedigree
Polymorphism, Single Nucleotide
Sequence Analysis, DNA
Huntington Disease genetics
Nerve Tissue Proteins genetics
Nuclear Proteins genetics
Trinucleotide Repeat Expansion genetics
Trinucleotide Repeats genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1552-4841
- Volume :
- 141B
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 16526033
- Full Text :
- https://doi.org/10.1002/ajmg.b.30261