scholarly journals Genetic analysis in a compound heterozygote family with familial hypercholesterolemia

2018 ◽  
Author(s):  
Fang Wang ◽  
Qin Fan ◽  
Rong Tao ◽  
Gang Gu ◽  
Ruiyan Zhang ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Familial Hypercholesterolemia ◽  
Compound Heterozygote

scholarly journals Targeted Genetic Analysis in a Chinese Cohort of 208 Patients Related to Familial Hypercholesterolemia

2020 ◽  
Vol 27 (12) ◽  
pp. 1288-1298 ◽  
Author(s):  
Hao Wang ◽  
Hang Yang ◽  
Zhaohui Liu ◽  
Kai Cui ◽  
Yinhui Zhang ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Familial Hypercholesterolemia ◽  
Chinese Cohort

scholarly journals Compound Heterozygous Familial Hypercholesterolemia and Familial Defective Apolipoprotein B-100 Produce Exaggerated Hypercholesterolemia

2001 ◽  
Vol 47 (3) ◽  
pp. 438-443 ◽  
Author(s):  
E Shyong Tai ◽  
Evelyn S C Koay ◽  
Edmund Chan ◽  
Tzer Jing Seng ◽  
Lih Ming Loh ◽  
...  
Keyword(s):  
Cell Proliferation ◽  
Genetic Analysis ◽  
Familial Hypercholesterolemia ◽  
Apolipoprotein B ◽  
Ldl Cholesterol ◽  
Index Case ◽  
Ldl Receptor ◽  
Cholesterol Concentration ◽  
Apo B ◽  
First Degree Relatives

Abstract Background: Familial hypercholesterolemia (FH) and familial defective apolipoprotein B-100 (FDB) represent ligand-receptor disorders that are complementary. Individuals with both FH and FDB are unusual. We report a family with both disorders and the impact of the mutations on the phenotypes of the family members. Methods: We used single strand conformation polymorphism (SSCP) and denaturing gradient gel electrophoresis (DGGE) for genetic analysis of all 18 exons and the promoter region of the LDL receptor and DGGE for genetic analysis of the apolipoprotein B-100 (apo B-100) gene. The functional significance of the apo B-100 mutation was studied using a U937 cell proliferation assay. Fasting serum lipid profiles were determined for the index case and seven first-degree relatives. Results: One of the patient’s sisters had a missense mutation (Asp407→Lys) in exon 9 of the LDL receptor and a serum LDL-cholesterol concentration of 4.07 mmol/L. Four other first-degree relatives had hyperlipidemia but no LDL-receptor mutation. However, these subjects had a mutation of the apo B-100 gene (Arg3500→Trp). The cell proliferation rate of U937 cells fed with LDL from other subjects with the same mutation was fourfold less than that of controls. The index case had both FH- and FDB-related mutations. Her serum LDL-cholesterol (9.47 mmol/L) was higher than all other relatives tested. Conclusions: Existence of both FH and FDB should be considered in families with LDL-receptor mutations in some but not all individuals with hypercholesterolemia or when some individuals in families with FH exhibit exaggerated hypercholesterolemia.

Genetic analysis in familial hypercholesterolemia improves diagnostic and prognostic information

1995 ◽  
Vol 115 ◽  
pp. S83
Author(s):  
H. Nissen ◽  
A.B. Hansen ◽  
P. Guldberg ◽  
T. Haghfelt ◽  
M. Hørder
Keyword(s):  
Genetic Analysis ◽  
Familial Hypercholesterolemia ◽  
Prognostic Information

Genetic analysis in Russian patients with familial hypercholesterolemia

2021 ◽  
Vol 331 ◽  
pp. e180
Author(s):  
E. Shakhtshneider ◽  
D. Ivanoshchuk ◽  
O. Timoshchenko ◽  
P. Orlov
Keyword(s):  
Genetic Analysis ◽  
Familial Hypercholesterolemia

scholarly journals Phenotypic and genetic analysis of a compound heterozygote for dys- and hypoprothrombinaemia

2002 ◽  
Vol 120 (1) ◽  
pp. 142-144 ◽  
Author(s):  
Sepideh Akhavan ◽  
Matteo Luciani ◽  
Silvia Lavoretano ◽  
Pier Mannuccio Mannucci
Keyword(s):  
Genetic Analysis ◽  
Compound Heterozygote
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