Abstract:
:Familial hypercholesterolemia (FH) (OMIM 143890) is an autosomal dominantly inherited disease mainly caused by mutations of the gene encoding the low density lipoprotein receptor (LDLR) and Apolipoprotein (Apo) B. First the common mutation R3500Q in ApoB gene was determined using PCR/RFLP method. Then the LDLR gene was screened for mutations using Touch-down PCR, SSCP and sequencing techniques. Furthermore, the secondary structure of the LDLR protein was predicted with ANTHEPROT5.0. The R3500Q mutation was absent in these two families. A heterozygous p.W483X mutation of LDLR gene was identified in family A which caused a premature stop codon, while a homozygous mutation p.A627T was found in family B. The predicted secondary structures of the mutant LDLR were altered. We identified two known mutations (p.W483X, p.A627T) of the LDLR gene in two Chinese FH families respectively.
journal_name
Mol Biol Repjournal_title
Molecular biology reportsauthors
Cheng X,Ding J,Zheng F,Zhou X,Xiong Cdoi
10.1007/s11033-008-9416-zsubject
Has Abstractpub_date
2009-11-01 00:00:00pages
2053-7issue
8eissn
0301-4851issn
1573-4978journal_volume
36pub_type
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