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Ring D chromosome: a second case associated with anomalous haptoglobin inheritance
Science (New York, N.Y.)
|June 30, 1967
Summary
Researchers identified a second child with a ring D chromosome and unusual haptoglobin inheritance. Autoradiography confirmed the ring chromosome is from chromosome 13, locating the haptoglobin alpha-chain gene locus.
Area of Science:
- Human Genetics
- Molecular Biology
- Cytogenetics
Background:
- Ring chromosome D abnormalities are rare genetic conditions.
- Haptoglobin (Hp) is a protein involved in hemoglobin binding.
- The genetic locus for haptoglobin has been previously investigated.
Purpose of the Study:
- To investigate the chromosomal origin of a ring D chromosome in a second patient.
- To determine the chromosomal location of the haptoglobin alpha-chain gene locus.
Main Methods:
- Autoradiographic analysis of peripheral lymphocytes.
- Karyotyping to identify chromosomal abnormalities.
Main Results:
- Autoradiography indicated the ring chromosome in both patients is derived from chromosome No. 13.
- Anomalous inheritance of haptoglobin was observed in the second child.
Conclusions:
- The haptoglobin alpha-chain gene locus is located on chromosome No. 13.
- Ring chromosome D abnormalities can provide insights into gene localization.