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Novel triplet repeat containing genes in human brain: cloning, expression, and length polymorphisms
S H Li1, M G McInnis, R L Margolis
1Department of Psychiatry, Johns Hopkins University, School of Medicine, Baltimore, Maryland 21205-2196.
Genomics
|June 1, 1993
Summary
Researchers identified novel human genes with triplet repeats in the brain. These genes may expand and cause neuropsychiatric diseases, explaining anticipation, and can serve as genetic markers.
Area of Science:
- Genetics
- Neuroscience
- Molecular Biology
Background:
- Triplet repeats in human genes can expand, leading to neuropsychiatric disorders and anticipation.
- Anticipation is characterized by increased disease severity or earlier onset in successive generations.
Purpose of the Study:
- To identify novel human genes containing triplet repeats.
- To investigate the role of these genes in neuropsychiatric diseases.
Main Methods:
- Screening of a human brain cDNA library using CTG or CCG triplet repeat probes.
- Sequencing of identified clones to confirm repeat presence and characteristics.
- Chromosomal assignment of identified genes.
Main Results:
- Fourteen novel human genes with triplet repeats were identified from 40 clones.
- Eight of these genes were sequenced, with 5 containing 9 or more consecutive perfect repeats.
- These genes are expressed in the brain and distributed across multiple chromosomes, with some exhibiting high polymorphism.
Conclusions:
- Novel triplet repeat-containing genes expressed in the human brain have been discovered.
- These genes are potential candidates for causing neuropsychiatric diseases associated with anticipation.
- Polymorphic repeat regions offer potential as linkage markers for genetic studies.