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Duplication/deletion polymorphism 5' - to the human beta globin gene

Nucleic Acids Research

|October 10, 1981

Summary

DNA analysis reveals frequent duplication or deletion events in human beta globin gene sequences. These tandem repeat variations occur much more often than other DNA sequence changes.

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Area of Science:

Molecular Biology
Genetics
Human Genomics

Background:

The human beta globin locus is crucial for oxygen transport.
Understanding sequence variation in this locus is key to genetic studies.

Purpose of the Study:

To analyze DNA sequence variation upstream of the human beta globin gene.
To investigate the frequency and nature of sequence heteromorphism in this region.

Main Methods:

DNA sequence analysis of cloned human beta globin alleles.
Comparison of sequences to identify variations, specifically tandem repeats.

Main Results:

Identified an array of simple tandem repeated sequences upstream of the beta globin gene.
Observed high frequency of sequence heteromorphism attributed to duplication/deletion of repeat units.
Duplication/deletion events are estimated to be 13-14 times more frequent than nucleotide substitutions.

Conclusions:

Duplication and deletion events within tandem repeat arrays are a major source of genetic variation.
This mechanism significantly contributes to sequence diversity at the human beta globin locus.

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