Two mutations in LDLR gene were found in two Chinese families with familial hypercholesterolemia
| Autor: | Xin Zhou, Fang Zheng, Chenling Xiong, Junfa Ding, Xiao-huan Cheng |
|---|---|
| Rok vydání: | 2008 |
| Předmět: |
Adult
Male China Apolipoprotein B DNA Mutational Analysis Mutant Familial hypercholesterolemia Biology medicine.disease_cause Protein Structure Secondary Hyperlipoproteinemia Type II Genetics medicine Humans Family Molecular Biology Gene Polymorphism Single-Stranded Conformational Apolipoproteins B Mutation nutritional and metabolic diseases Single-strand conformation polymorphism Cholesterol LDL General Medicine Middle Aged medicine.disease Molecular biology Pedigree Cholesterol Receptors LDL LDL receptor biology.protein Female lipids (amino acids peptides and proteins) Restriction fragment length polymorphism |
| Zdroj: | Molecular Biology Reports. 36:2053-2057 |
| ISSN: | 1573-4978 0301-4851 |
| DOI: | 10.1007/s11033-008-9416-z |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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