Abstract
A new two-allele PCR-based MspI restriction fragment length polymorphism (RFLP) was revealed at the human LDL receptor locus. The polymorphic MspI restriction site is located in the 3'-untranslated region of exon 18 and caused by a T to C substitution at nucleotide 3960. This new MspI RFLP may be useful with other informative RFLPs to follow the segregation of the LDL receptor gene in families with hypercholesterolemia.
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