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Fractionation for Resolution of Soluble and Insoluble Huntingtin Species
Published on: February 27, 2018
A study on Huntington's disease associated trinucleotide repeat within the Chinese population
1Department of Neurology, Veterans General Hospital-Taipei, Taipei, Taiwan, R.O.C.
Proceedings of the National Science Council, Republic of China. Part B, Life Sciences
|July 1, 1995
Summary
Researchers analyzed the huntingtin gene
Area of Science:
- Genetics
- Neurodegenerative Diseases
Background:
- Huntington's disease (HD) is a neurodegenerative disorder.
- The disease is caused by an expanded CAG repeat in the huntingtin gene.
Purpose of the Study:
- To analyze the polymorphic (CAG)n repeat in the huntingtin gene in the Chinese population in Taiwan.
- To compare HD molecular biology between Chinese and Caucasian populations.
Main Methods:
- Measurement of CAG repeat sequences in 35 HD chromosomes and 159 control chromosomes.
- Analysis of repeat size distribution and transmission patterns.
Main Results:
- Confirmed expanded CAG repeats in all Huntington's disease chromosomes in the Taiwanese Chinese population.
- Normal subjects had 9-29 repeats (median 17), while affected subjects had 40-58 repeats (median 44).
- Expansion size inversely correlated with age at onset, particularly in early-onset HD.
Conclusions:
- The molecular biology of Huntington's disease is similar in Chinese and Caucasian populations.
- The hypothesis of a limited European founder effect for worldwide HD is challenged.
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