Two mutations in LDLR gene were found in two Chinese families with familial hypercholesterolemia

Molecular Biology Reports

Volumn 36, Issue 8, 2009, Pages 2053-2057

  Cheng, Xiaohuan ^a   Ding, Junfa ^a   Zheng, Fang ^a   Zhou, Xin ^a   Xiong, Chenling ^a  

^a ZHONGNAN HOSPITAL OF WUHAN UNIVERSITY   (China)

Author keywords

Coronary heart disease; Familial hypercholesterolemia; Low density lipoprotein receptor

Indexed keywords

APOLIPOPROTEIN B; LOW DENSITY LIPOPROTEIN RECEPTOR;

ADULT; ARTICLE; CONTROLLED STUDY; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MALE; POLYMERASE CHAIN REACTION; PROTEIN ANALYSIS; PROTEIN STRUCTURE; SEQUENCE ANALYSIS; STOP CODON; STRUCTURE ANALYSIS;

ADULT; APOLIPOPROTEINS B; CHINA; CHOLESTEROL; CHOLESTEROL, LDL; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; MIDDLE AGED; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN STRUCTURE, SECONDARY; RECEPTORS, LDL;

EID: 70350338920     PISSN: 03014851     EISSN: 15734978     Source Type: Journal    
DOI: 10.1007/s11033-008-9416-z     Document Type: Article

References (21)

1. M Sozen R Whittall SE Humphries 2004 Mutation detection in patients with familial hypercholesterolaemia using heteroduplex and single strand conformation polymorphism analysis by capillary electrophoresis Atheroscler Suppl 5 5 7 11 10.1016/j.atherosclerosissup.2004.09.003 1:CAS:528:DC%2BD2cXhtVSgu7zN 15556093 (Pubitemid 39535760)
2. A Jelassi M Najah I Jguirim, et al. 2008 A novel splice site mutation of the LDL receptor gene in a Tunisian hypercholesterolemic family Clin Chim Acta 392 1-2 25 29 10.1016/j.cca.2008.02.019 1:CAS:528:DC%2BD1cXlsFOqtb0%3D 18355452
3. S Pandit D Wisniewski JC Santoro, et al. 2008 Functional analysis of sites within PCSK9 responsible for hypercholesterolemia J Lipid Res 49 6 1333 1343 10.1194/jlr.M800049-JLR200 1:CAS:528:DC%2BD1cXmslWnu74%3D 18354137
4. M Bourbon AC Alves AM Medeiros, et al. 2008 Familial hypercholesterolaemia in Portugal Atherosclerosis 196 2 633 642 10.1016/j.atherosclerosis.2007.07.019 1:CAS:528:DC%2BD1cXhsVCjtbw%3D 17765246
5. MA Austin CM Hutter RL Zimmern, et al. 2004 Genetic causes of monogenic heterozygous familial hypercholesterolemia: A HuGE prevalence review Am J Epidemiol 160 5 407 420 10.1093/aje/kwh236 15321837 (Pubitemid 39166973)
6. P Halloran T Pisani S Long 1997 A homogeneous assay for the direct measurement of LDL-cholesterol in serum Clin Chem 43 254 258
7. VN Loparev MA Cartas CE Monken, et al. 1991 An efficient and simple method of DNA extrac- tion from whole blood and cell line to identify infectious agents J Virol Methods 34 1 105 10.1016/0166-0934(91)90126-K 1:CAS:528:DyaK38Xht1ajsLk%3D 1955487
8. PS Hansen N Rüdiger A Tybjaerg-Hansen, et al. 1991 Detection of the apoB-3500 mutation (gluta- mine for arginine) by gene amplification and cleavage with MspI J Lipid Res 32 7 1229 1233 1:CAS:528:DyaK3MXlslKlt7w%3D 1719111
9. LY Wang SC Cao J Lin, et al. 2003 Application of Touch-down PCR technique in the research of detecting gene point mutation in LDL-R gene Chin J Lab Med 26 7 403 406 1:CAS:528:DC%2BD2cXkvFKlu7o%3D
10. J Geisel T Walz M Bodis, et al. 1999 Fluorescence-based single-strand conformation polymorphism analysis of the low density lipoprotein receptor gene by capillary electrophoresis J Chromatogr B Biomed Sci Appl 724 2 239 247 10.1016/S0378-4347(98)00581-7 1:CAS:528:DyaK1MXitFWrurk%3D 10219664 (Pubitemid 29148083)
11. M Yan C Xiong SQ Ye, et al. 2008 A novel connexin 50 (GJA8) mutation in a Chinese family with a dominant congenital pulverulent nuclear cataract Mol Vis 14 418 424 1:CAS:528:DC%2BD1cXjt1ahtLs%3D 18334966
12. G Deleage C Combet C Blanchet, et al. 2001 ANTHEPROT: an integrated protein sequence analysis software with client/server capabilities Comput Biol Med 31 4 259 267 10.1016/S0010-4825(01)00008-7 1:CAS:528:DC%2BD3MXjtFCmsL4%3D 11334635 (Pubitemid 32378727)
13. G Deleage FF Clerc B Roux 1989 ANTHEPROT-IBM PC and APPLE MACINTOSH Versions Comput Appl Biosci 5 2 159 160 1:CAS:528:DyaL1MXktVeksL4%3D 2720466
14. G Deleage FF Clerc B Roux, et al. 1988 ANTHEPROT: a package for protein sequence analysis using a microcomputer Comput Appl Biosci 3 351 356
15. Leigh SE, Foster AH, Whittall RA et al (2008) Update and analysis of the university college London low density lipoprotein receptor familial hypercholesterolemia database. Ann Hum Genet. Mar 3 [Epub ahead of print]
16. YT Mak CP Pang B Tomlinson, et al. 1998 Mutations in the low-density lipoprotein receptor gene in Chinese familial hypercholesterolemia patients Arterioscler Thromb Vasc Biol 18 10 1600 1605 1:CAS:528:DyaK1cXmvFGhsrc%3D 9763532 (Pubitemid 28465412)
17. HH Hobbs DW Russell MS Brown, et al. 1990 The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein Annu Rev Genet 24 133 170 10.1146/annurev.ge.24.120190.001025 1:CAS:528: DyaK3MXhtFGrt7Y%3D 2088165
18. JH Chang JP Pan DY Tai, et al. 2003 Identification and characterization of LDL receptor gene mutations in hyperlipidemic Chinese J Lipid Res 44 10 1850 1858 10.1194/jlr.M200470-JLR200 1:CAS:528:DC%2BD3sXos1Giuro%3D 12837857 (Pubitemid 37356657)
19. SN Pimstone XM Sun C du Souich, et al. 1998 Phenotypic variation in heterozygous familial hypercholesterolemia: a comparison of Chinese patients with the same or similar mutations in the LDL receptor gene in China or Canada Arterioscler Thromb Vasc Biol 18 2 309 315 1:STN:280:DyaK1c7ktlGhuw%3D%3D 9484998
20. XM Sun DD Patel JC Webb, et al. 1994 Familial hypercholesterolemia in China. Identification of mutations in the LDL-receptor gene that result in a receptor-negative phenotype Arterioscler Thromb Vasc Biol 14 1 85 94 1:CAS:528:DyaK2cXivFGqtLg%3D
21. CG Davis JL Goldstein RG Anderson, et al. 1987 Acid dependent ligand dissociation and recycling of LDL receptor mediated by growth factor homology region Nature 326 760 765 10.1038/326760a0 1:CAS:528:DyaL2sXksFKgtrk%3D 3494949 (Pubitemid 17057795)