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Polymorphism in a ferritin H gene from chromosome 6p
E Zappone1, I Dugast, P Papadopoulos
1Biochemistry Department, Tufts University, School of Medicine, Boston, MA 02111.
Human Genetics
|April 1, 1991
Summary
This study investigated ferritin gene alterations in hemochromatosis (HC), an iron storage disease. Researchers found no major deletions in the ferritin H genes and a specific gene polymorphism unrelated to HC presence.
Area of Science:
- Genetics
- Molecular Biology
- Medical Research
Background:
- Hemochromatosis (HC) is an iron storage disease.
- Abnormalities in ferritin expression are observed in HC.
- The ferritin H genes are located near the HC disease locus on chromosome 6p.
Purpose of the Study:
- To determine if major deletions or alterations in ferritin H genes are associated with hemochromatosis.
- To investigate a specific polymorphism in a ferritin H gene pseudogene.
Main Methods:
- Southern blot analysis was used to examine DNA.
- Genetic analysis was performed to identify gene deletions and polymorphisms.
Main Results:
- No evidence of major deletions in either ferritin H gene was found in hemochromatosis patients.
- A previously identified polymorphism in a ferritin H processed pseudogene was confirmed.
- This polymorphism did not correlate with the presence of hemochromatosis.
Conclusions:
- Major deletions in ferritin H genes are not responsible for hemochromatosis.
- The investigated polymorphism in the ferritin H pseudogene is not a marker for hemochromatosis.