title: Two mutations in LDLR gene were found in two Chinese families with familial hypercholesterolemia.
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.
authors.affiliation: Center for Gene Diagnosis, Zhongnan Hospital of Wuhan University, Wuhan, Hubei 430071, China.
authors.forename: Xiaohuan
authors.initials: X
authors.lastname: Cheng
authors.forename: Junfa
authors.initials: J
authors.lastname: Ding
authors.forename: Fang
authors.initials: F
authors.lastname: Zheng
authors.forename: Xin
authors.initials: X
authors.lastname: Zhou
authors.forename: Chenling
authors.initials: C
authors.lastname: Xiong
mesh_terms: D000328:Adult; D001055:Apolipoproteins B / Q000235:genetics; D002681:China; D002784:Cholesterol / Q000097:blood; D008078:Cholesterol, LDL / Q000097:blood; D004252:DNA Mutational Analysis; D005190:Family; D005260:Female; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D017433:Protein Structure, Secondary; D011973:Receptors, LDL / Q000737:chemistry / Q000235:genetics*
chemical_list: D001055:Apolipoproteins B; D008078:Cholesterol, LDL; D011973:Receptors, LDL; D002784:Cholesterol