A new MspIPCR-RFLP in the human LDL receptor gene.
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.
Chae
J J
JJ
Department of Molecular Biology, Seoul National University, Korea.
Kim
S H
SH
Hong
S S
SS
Namkoong
Y
Y
Park
Y B
YB
Lee
C C
CC
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
D011973:Receptors, LDL; D019003:Deoxyribonuclease HpaII