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A "de-novo" Mutation in the Low Density Lipoprotein Recept Gene and the Function of Its Associated Receptor

Author: LiuYanRong
Tutor: ChenJunZhu
School: Zhejiang University
Course: Internal Medicine
Keywords: Familial hypercholesterolemia Low-density lipoprotein receptor Flow cytometry DiI-LDL EB virus immortalized lymphoblastoid cell Heterozygous Homozygous
CLC: R589.2
Type: Master's thesis
Year: 2004
Downloads: 80
Quote: 0
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Abstract


Background : Familial hypercholesterolemia (Familial Hypercholesterolemia, FH) is due to the low density lipoprotein receptor (Low Density Lipoprotein Receptor, LDLR) gene mutations cause autosomal dominant genetic disease . The study shows that the EB virus immortalized lymphoblastoid cell line (Epstein-Barr transformed cell lines, EBV-Ls) can reflect vivo LDLR activity of cell surface LDLR activity was measured by flow cytometry (Fluorescence flow cytometry, FFC) is a kind of a new and simple method . Objective: To establish and save the LDLR gene new mutations bit point Exon4 GAGB83GCG ( Glu - Ala ) pedigree homozygous and hetero zygote of EB virus immortalized cell strains and their immortalized cell surface of LDLR The activity was measured in order to investigate the mutation with FH 's relationship. METHODS: Conventional viral transfection method to establish heterozygous and homozygous FH patients and healthy controls EBV -Ls of DiI- LDL and fat-free serum incubation of EBV -Ls surface LDLR function is then detected by flow cytometry . Results: A heterozygous FH and homozygous FH EBV-Ls, save research materials . The LDLR percentage observed in healthy controls surface expression of EBV-Ls 84.69% heterozygous FH patients with homozygous FH 62.64% and 7.02% , respectively . Heterozygous FH patients LDLR activity was 73.96% of normal , and 8.29% of the normal LDLR activity of homozygous FH patients . Zhejiang University, a master's degree thesis conclusions : mutations in the LDLR gene Exon4 GAG683GCG (Glu - Ala) LDLR functional defects cause the family .

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CLC: > Medicine, health > Internal Medicine > Endocrine diseases and metabolic diseases > Metabolic diseases > Lipodystrophy
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