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- W2387173774 abstract "Objective Familial hypercholesterolemia (FH), an autosomal dominant disorder caused by mutations in the low density lipoprotein receptor (LDLR) gene, is closely associated with premature development of cardiovascular disease. In this study, we applied a gene screening method and investigated LDLR gene mutations in children with familial hypercholesterolemia in China. Methods The proband, a 14 year old girl, was given a clinical diagnosis of FH based on a markedly increased concentration of plasma cholesterol(15 4 mmol/L ), presence of tendon xanthomata. The proband′s sister, who was 12 years old, also presented the same clinical manifestation. However, their parents had had no clinical signs of FH. Genomic DNA were extracted from the two children and their parents in the family. Promoter region and all of the 18 exons of LDLR gene including the intron exon boundary were amplified by polymerase chain reaction (PCR) and were analyzed by Temperature gradient gel electrophoresis (TGGE). The PCR products show abnormal patterns by TGGE were sequenced directly. Results A homozygous mutation at exon 13 of the proband was found by parallel TGGE. Homozygous and heterozygous mutations were also found in the family by parallel TGGE. A missense mutation (Ala 606 →Thr) in exon 13 of LDLR gene was identified by DNA sequencing.The two children had homozygous mutation; their parents were heterozygous mutation. It was first reported that the homozygous Ala 606 →Thr mutation was found in the mainland of China. Conclusion The newly identified mutation cosegregated in the family members and were thought to be causal for the FH phenotype. Molecular genetic analysis of the gene for the LDL receptor in affected families can contribute towards early assessment for the diagnosis of FH and thus to prevention of life threatening cardiovascular episodes in asymptomatic subjects. TGGE combined with DNA sequencing can be used in the genetic diagnosis of FH." @default.
- W2387173774 created "2016-06-24" @default.
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- W2387173774 date "2001-01-01" @default.
- W2387173774 modified "2023-09-22" @default.
- W2387173774 title "Analysis of the low density lipoprotein receptor(LDLR)gene mutations in children with familial hypercholesterolemia" @default.
- W2387173774 hasPublicationYear "2001" @default.
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