Abstract
We identified by polymerase chain reaction/ single-strand conformation polymorphism analysis two unreported polymorphisms in the low density lipoprotein receptor gene, located in exons 11 and 15. The exon 15 sequence variation can also be readily detected since it abolishes an MspI site.
Similar content being viewed by others
References
Attree O, Vidaud D, Vidaud M, Amselem S, Lavergne JM, Goossens M (1989) Mutations in the catalytic domain of human factor IX: rapid characterization by direct genomic sequencing of DNA fragments displaying an altered melting behaviour. Genomics 4:266–272
Benlian P, Loux N (1991) LDL receptor gene mutation heterogeneity in familial hypercholesterolemia. MS Med-Sci 6:901–903
Hobbs H, Russel D, Brown M, Goldstein J (1990) The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein. Annu Rev Genet 24:133–170
Leitersdorf E, Tobin E, Davignon J, Hobbs H (1990) Common low-density lipoprotein receptor mutations in the French Canadian population. J Clin Invest 85:1014–1023
Loux N, Benlian P, Pastier D, Boileau C, Cambou JP, Monnier L, Percheron C, Junien C (1991) Recurrent mutation at aa792 in the LDL receptor gene in a French patient. Hum Genet 87:373–375
Orita M, Suzuki Y, Sekiya T, Hayashi K (1989) Rapid and sensitive detection of point mutations and DNA polymorphism using he polymerase chain reaction. Genomics 5:874–879
Yamamoto T, Davis C, Brown M, Schneider W, Casey M, Goldstein J, Russel D (1984) The human LDL receptor: a cysteinerich protein with multiple Alu sequences in its mRNA. Cell 39:27–38
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Saint-Jore, B., Loux, N., Junien, C. et al. Two new polymorphisms in the coding sequence of the LDL receptor (LDLR) gene. Hum Genet 91, 511–512 (1993). https://doi.org/10.1007/BF00217783
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00217783