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Cystic fibrosis mutations in the Hutterite Brethren
K Klinger1, G T Horn, P Stanislovitis
1Integrated Genetics, Framingham, MA.
American Journal of Human Genetics
|May 1, 1990
Summary
Researchers investigated the major cystic fibrosis (CF) mutation, delta F508, in the Hutterite population. They found delta F508 is linked to one of three CF haplotypes, suggesting multiple CF mutation origins in founders.
Area of Science:
- Genetics
- Molecular Biology
- Population Studies
Background:
- Cystic Fibrosis (CF) is a genetic disorder.
- The delta F508 mutation is the most common CF mutation.
- The Hutterite population is a genetically isolated North American group.
Purpose of the Study:
- To determine the presence and distribution of the delta F508 mutation in the Hutterite population.
- To investigate the relationship between CF mutation haplotypes and the delta F508 mutation in Hutterites.
- To assess the number of CF mutation origins in the Hutterite founder population.
Main Methods:
- Genomic DNA analysis from 10 Hutterite families affected by CF.
- Polymerase Chain Reaction (PCR) using allele-specific oligonucleotides.
- Analysis of DNA markers and haplotypes associated with CF chromosomes.
Main Results:
- The delta F508 mutation is present in one of three distinct CF haplotypes within the Hutterite population.
- This delta F508-associated haplotype is the most common in Hutterite CF chromosomes.
- Two other Hutterite CF haplotypes do not carry the delta F508 mutation, indicating the presence of other CF mutations.
Conclusions:
- The findings support the hypothesis of at least three independent CF mutation origins among Hutterite founders.
- All copies of the same CF haplotype in this population are likely identical by descent.
- Further analysis of a patient with two non-delta F508 haplotypes could identify additional CF mutations.