A rapid method for diagnosis of the Lebanese allele in the low-density lipoprotein receptor gene.
The Lebanese allele in the low-density lipoprotein receptor gene is one of the alleles which results in the disease familial hypercholesterolemia. We describe a rapid method for detection of the Lebanese allele, using the polymerase chain reaction to amplify part of exon 13, intron 14 and all of exon 14. The amplified DNA is then digested with HinfI which distinguishes between the normal and Lebanese alleles. A previously unidentified HinfI site is described in the intron. HinfI fragments are separated using polyacrylamide gel electrophoresis, and visualized by ethidium bromide staining.
Cavanaugh
J A
JA
Human Genetics Group, John Curtin School of Medical Research, Australian National University, Canberra, ACT.
Easteal
S
S
Simons
L
L
Serjeantson
S
S
D000483:Alleles; D001315:Australia / Q000453:epidemiology; D001483:Base Sequence; D004591:Electrophoresis, Polyacrylamide Gel; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D007861:Lebanon / Q000208:ethnology; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D015995:Prevalence; D011973:Receptors, LDL / Q000235:genetics*; D013997:Time Factors
D011973:Receptors, LDL