title: A new MspIPCR-RFLP in the human LDL receptor gene.
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.
authors.affiliation: Department of Molecular Biology, Seoul National University, Korea.
authors.forename: J J
authors.initials: JJ
authors.lastname: Chae
authors.forename: S H
authors.initials: SH
authors.lastname: Kim
authors.forename: S S
authors.initials: SS
authors.lastname: Hong
authors.forename: Y
authors.initials: Y
authors.lastname: Namkoong
authors.forename: Y B
authors.initials: YB
authors.lastname: Park
authors.forename: C C
authors.initials: CC
authors.lastname: Lee
mesh_terms: D000483:Alleles; D019003:Deoxyribonuclease HpaII / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011973:Receptors, LDL / Q000235:genetics*; D015183:Restriction Mapping
chemical_list: D011973:Receptors, LDL; D019003:Deoxyribonuclease HpaII