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The length polymorphism between the human zeta-globin gene and its pseudogene is caused by an allele-specific variation in the copy number of a tandemly repeating 36-base-pair sequence. This sequence is related to a tandemly repeated 14-base-pair sequence in the 5' flanking region of the human insulin gene, which is known to cause length polymorphism, and to a repetitive sequence in intervening sequence (IVS) 1 of the pseudo-zeta-globin gene. Evidence is presented that the latter is also of variable length, probably because of differences in the copy number of the tandem repeat. The homology between the three length polymorphisms may be an indication of the presence of a more widespread group of related sequences in the human genome, which might be useful for generalized linkage studies.

Original publication




Journal article


Proceedings of the National Academy of Sciences of the United States of America

Publication Date





5022 - 5026


Humans, Insulin, DNA Restriction Enzymes, Globins, Cloning, Molecular, Nucleic Acid Hybridization, Base Composition, Base Sequence, Polymorphism, Genetic, Genes