scholarly journals Apolipoprotein H Variant Modifies Plasma Triglyceride Phenotype in Familial Hypercholesterolemia: A Molecular Study in an Eight-generation Hyperlipidemic Family.

2003 ◽  
Vol 10 (2) ◽  
pp. 79-84 ◽  
Author(s):  
Daisuke Takada ◽  
Yoichi Ezura ◽  
Shuji Ono ◽  
Yasuhiko Iino ◽  
Yasuo Katayama ◽  
...  
Keyword(s):  
Familial Hypercholesterolemia ◽  
Molecular Study ◽  
Plasma Triglyceride ◽  
Apolipoprotein H

scholarly journals Corresponding of Genetic polymorphism the apolipoprotein B R3500Q gene mutation with possible Familial Hypercholesterolemia (FH) pateints in Sulaymaniyah

2019 ◽  
Vol 23 (10) ◽  
pp. 33
Author(s):  
Hadeel A. Abdel-Razaak Al-daraji1 ◽  
Akeel H. Ali Al-Assie2 ◽  
Rada H. Hussien3
Keyword(s):  
Familial Hypercholesterolemia ◽  
Apolipoprotein B ◽  
Low Density Lipoprotein ◽  
Reaction System ◽  
Density Lipoprotein ◽  
Molecular Study ◽  
Compound Heterozygous ◽  
Apob Gene ◽  
Molecular Tests ◽  
S Model

Familial Hypercholesterolemia (FH) is autosomal codominant disease Characterized by elevated LDL Cholesterol and Early Coronary Artery disease. (FH) is commonly caused by mutations in the three genes: The Low-Density Lipoprotein Receptor (LDLR), apolipoprotein B (apoB), Proprotein Convertase Subtilisin ⁄ Kexin type 9 (PCSK9). The current study aimed to identify mutations in people with homozygous genotypes that affect protein binding causing defects and to ensure that these conditions are diagnosed through important molecular tests through the early intervention of the apoptoprotein gene (apoB) for the R3500Q mutagenic of healthy individuals not associated with hypercholesterolemia (FH) in Sulaymaniyah through the conduct of the polymer chain reaction system and Restrication enzyme genotyping. The study included determination of the polymorphism of genes associated with familial hypercholesterolemia (FH). The molecular study included the genetic analysis of (50) samples of the R3500Q mutation of the apoB gene, after adding the ScaI enzyme, showed there three genotype: were four cases found Homozygous to be one bundle (S+ ⁄ S+) (143 bp), a one case compound heterozygous (S- ⁄ S+) model are two bundle ( 143 bp, 90 bp) and a fourty-five cases had mutant  Homozygous (S- ⁄ S-)  model  of  the  one  bundle  (90 bp), all the R3500Q mutations were found on the same allele.                                           the study also included the R3500Q mutation of the apoB gene and Its relation to the studied traits, there was a significant increase in the 0.01 for cholesterol, TG and LDL for patients with hypercholesterolemia was mean (235.61 mg ⁄ dl, 321.83 mg ⁄ dl and 330.90 mg ⁄ dl) respectively , compared to healthy pateints with mean (172.15 mg ⁄ dl , 109.88 mg ⁄ dl and 77.1 mg  ⁄ dl).   http://dx.doi.org/10.25130/tjps.23.2018.166

MS39 MOLECULAR STUDY OF FAMILIAL HYPERCHOLESTEROLEMIA IN BELGIUM

2010 ◽  
Vol 11 (2) ◽  
pp. 117
Author(s):  
E. Tarantino ◽  
S. Mabille ◽  
M. Bruniaux ◽  
O. Descamps
Keyword(s):  
Familial Hypercholesterolemia ◽  
Molecular Study

Mo-P6:390 Molecular study of familial hypercholesterolemia in Portugal

2006 ◽  
Vol 7 (3) ◽  
pp. 131
Author(s):  
M. Bourbon ◽  
A.C. Alves ◽  
A.M. Medeiros ◽  
S. Silva ◽  
A.K. Soutar
Keyword(s):  
Familial Hypercholesterolemia ◽  
Molecular Study
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