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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.

Type

Journal article

Journal

Proc Natl Acad Sci U S A

Publication Date

1983

Volume

80

Pages

5022 - 5026

Keywords

Base Composition Base Sequence *Cloning, Molecular DNA Restriction Enzymes *Genes, Structural Globins/*genetics Human Insulin/genetics Nucleic Acid Hybridization *Polymorphism (Genetics) Support, Non-U.S. Gov't