Four new mutations and two polymorphic variants of the low-density lipoprotein receptor gene in familial hypercholesterolemia patients from St. Petersburg

Genetika

Volumn 37, Issue 9, 2001, Pages 1290-1295

  Tatishcheva, Yu A ^a,b   Yu Mandelshtam, M ^a   Golubkov, V I ^a   Lipovetsky, B M ^a   Gaitskhoki, V S ^a  

^a INSTITUTE OF EXPERIMENTAL MEDICINE   (Russian Federation)

^b RUSSIAN ACADEMY OF SCIENCES   (Russian Federation)

Author keywords

[No Author keywords available]

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR; PRIMER DNA;

ARTICLE; EXON; FEMALE; GENETICS; HUMAN; HYPERLIPOPROTEINEMIA TYPE 2; MALE; MUTATION; NUCLEOTIDE SEQUENCE; RUSSIAN FEDERATION; SINGLE STRAND CONFORMATION POLYMORPHISM;

BASE SEQUENCE; DNA PRIMERS; EXONS; FEMALE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTORS, LDL; RUSSIA;

EID: 0035460346     PISSN: 00166758     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (16)

1. Goldstein J.L., Hobbs H.H., Brown M.S. Familial hypercholesterolemia//The Metabolic Basis of Inherited Diseases / Eds Scriver C.R., Beaudét A.L., Sly W.S., Valle D. N.Y.: McGraw Hill, 1995. P. 1981-2030.
2. Mandelshtam M.Ju., Lipovetskyi B.M., Schwartzman A.L., Gaitskhoki V.S. A novel deletion in the low density lipoprotein receptor gene in a patient with familial hypercholesterolemia from Petersburg // Human Mutât. 1993. V. 2. No. 4. P. 256-260.
3. Mandelshtam M.Ju., Chakir Kh., Shevtsov S et al. Prevalence of Lithuanian mutation among St. Petersburg jews with familial hypercholesterolemia // Human Mutât. 1998. V. 12. P. 255-258.
4. Chakir Kh., Mandelshtam M.Ju., Shevtsov S et al. Two novel low density lipoprotein receptor gene mutations (E397X and 347delGCC) in St. Petersburg familial hypercholesterolemia//Mol. Genet. Metab. 1998. V. 65. P. 311-314.
5. Kunkel L.M., Smith K.D., Boyer S.H. et al. Analyses of human Y-chromosome-specific reiterated DNA in chromosome variants // Proc. Natl Acad. Sei. USA. 1977. V. 74. P. 1245-1249.
6. Hobbs H.H., Brown M.S., Goldstein J.L. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia//Human Mutât. 1992. V. 1. P. 445-466.
7. PCR Technology. Principles and Applications for DNA Amplification / Ed. H.A. Erlich. N.Y.: Stocktons; L.: McMillan, 1989. P. 7-16.
8. Sambrook J., F ritsch E.F., Maniatis T. Molecular cloning, laboratory manual. Cold Spring Harbor Lab. Press, 1989. P. 1.8-1.9.
9. White M.B., Carvalho M., Derse D. et al. Detecting single base substitutions as heteroduplex polymorphisms // Genomics. 1992. V. 12. P. 301-306.
10. Orita M., Iwahana H., Sekiya T., Hayashi K. et al. Detection of polymorphism of human DNA by gel electrophoresis as single strand conformational polymorphism// Proc. Natl Acad. Sei. USA. 1990. V. 86. P. 2766-2770.
11. Sanger F., Nickten S., Coulson A.R. DNA sequencing with chain-terminating inhibitors // Proc. Natl Acad. Sei. USA. 1977. V. 74. P. 5463-5467.
12. Jensen H.K., Jemen L.G., Hansen P.S. et al. High sensitivity of the single-strand conformation polymorphism method for detecting sequence variations in the low-density lipoprotein receptor gene validated by DNA sequencing // Clin. Chem. 1996. V. 42. P. 1140-1146.
13. Warnich L., Kotze M.J., Langenhoven E., Retief A.E. Detection of a frequent polymorphism in exon 10 of the low-density lipoprotein receptor gene // Human Genet. 1992.V. 89. No. 3. P. 362.