Related Experiment Videos
HpaI polymorphism and the sickle gene in Nigerians
1Postgraduate Institute of Medical Research and Training, University of Ibadan, Nigeria.
Gene Geography : a Computerized Bulletin on Human Gene Frequencies
|April 1, 1988
Summary
HpaI restriction fragment length polymorphism analysis in Nigerian subjects reveals that while most beta S genes are linked to the 13kb fragment, some beta A genes are also found there, impacting sickle cell anemia prenatal diagnosis accuracy.
Area of Science:
- Genetics
- Molecular Biology
- Population Studies
Background:
- Sickle cell anemia is a significant public health concern, particularly in Nigeria.
- Restriction Fragment Length Polymorphisms (RFLPs) linked to the beta globin gene are used for genetic studies.
- HpaI polymorphism is a tool for investigating beta globin gene variations.
Purpose of the Study:
- To investigate the association between HpaI restriction sites and beta globin gene variants (beta S and beta A) in a Nigerian population.
- To assess the utility of HpaI polymorphism for prenatal diagnosis of sickle cell anemia in this demographic.
Main Methods:
- Analysis of HpaI restriction fragment length polymorphism in 181 Nigerian subjects.
- Genotyping for beta S and beta A globin gene alleles.
- Statistical analysis of fragment length associations with specific alleles.
Main Results:
- The beta S gene was predominantly found in the 13 kb HpaI fragment (98.4%).
- The beta A gene was mostly associated with the 7.6 kb or 7.0 kb fragments (94.2%).
- A small percentage of beta A genes were found in the 13 kb fragment (5.8%), and beta S genes in the 7.6 kb fragment (1.6%).
Conclusions:
- The observed non-zero associations between beta A genes and the 13 kb fragment, and beta S genes and the 7.6 kb fragment, can reduce the accuracy of HpaI RFLP-based prenatal diagnosis for sickle cell anemia in Nigerians.
- Genetic variations in linkage disequilibrium require careful consideration for diagnostic test reliability in specific populations.