Characterization of two novel polymorphisms at the human parathyroid hormone gene locus.

Two new polymorphisms within the human parathyroid hormone (PTH) gene are described. One corresponds to a C----A transversion that destroys DraII and NlaIV restriction sites. The other is revealed by the enzyme XmnI, and its position has been mapped with respect to the PTH gene. We have also identified a sequence change that results in the TaqI restriction fragment length polymorphism (RFLP) described previously at this locus and have found that this sequence change also results in disruption of a BstBI site. Finally, we describe a polymerase chain reaction (PCR)-based method that permits a rapid evaluation of the DraII and BstBI (TaqI) polymorphisms. The introduction of these two additional RFLPs and this PCR-based assay should considerably extend the power of genetic analyses of the human PTH gene.