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Localisation of human alpha globin to 16p13.3----pter
V J Buckle1, D R Higgs, A O Wilkie
1Nuffield Department of Clinical Medicine, John Radcliffe Hospital, Oxford.
Journal of Medical Genetics
|December 1, 1988
Summary
A child inherited an abnormal chromosome 16, leading to alpha thalassaemia trait and developmental delays. This genetic condition resulted from unbalanced segregation of a maternal translocation, affecting chromosome 16p13.3.
Area of Science:
- Human genetics
- Cytogenetics
- Molecular biology
Background:
- A balanced translocation in a mother led to unbalanced segregation during meiosis.
- This resulted in a complex chromosomal abnormality in her offspring.
Observation:
- The female child presented with alpha thalassaemia trait, moderate mental retardation, and dysmorphic features.
- Cytogenetic analysis revealed monosomy for 16p13.3----pter and trisomy for 10q26.13----qter.
Findings:
- DNA studies confirmed the absence of both maternal alpha globin alleles in the child.
- This genetic finding explains the alpha thalassaemia trait.
- The human alpha globin complex is localized to the 16p13.3----pter region.
Implications:
- This case highlights the impact of unbalanced chromosomal segregation on phenotype.
- It provides further evidence for the gene mapping of the alpha globin complex.
- Understanding such complex rearrangements is crucial for genetic counseling and diagnosis.