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Nucleic Acids Research, 1988, Vol. 16, No. 17 8487-8496
© 1988

Articles

Intrinsic polymorphism of variable number tandem repeat loci in the human genome

Sher Ali and R. Bruce Wallace

Department of Molecular Biochemistry, Beckman Research Institute of the City of Hope 1450 E, Duarte Rd, Duarte, CA 91010, USA

Received April 27, 1988. Revised June 15, 1988. Accepted June 15, 1988.

In the human genome, short tandem repetitive (STR) DNA sequences often show restriction fragment length polymorphisms (RFLPs) due to variation in the number of copies of the repeat unit. For a subset of these sequences known as minisatellites or variable number tandem repeat loci (VNTR), it has been proposed that a homologous "core" sequence of 10–12 nucleotides is involved in the mechanism(s) generating the polymorphism. In our present study we have prepared oligonucleotide probes complementary to one or two repeat units of several VNTR loci. Under stringent hybridization and wash conditions these probes hybridize locus specifically thus allowing the evaluation of the intrinsic polymorphism of individual loci. Our results indicate that not all of the lod having STR DNA sequences are polymorphic despite the fact that they share the "core" sequence. This suggests that more than the DNA sequence of the locus is involved 1n the mechanism(s) generating the polymorphism.


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