scholarly journals SCREENING FOR GENETIC MUTATIONS IN LDLR GENE WITH FAMILIAL HYPERCHOLESTEROLEMIA IN THE MONGOLIAN POPULATION

2021 ◽  
Vol 39 (Supplement 1) ◽  
pp. e266
Author(s):  
Tsolmon Unurjargal ◽  
Bolortuul Byambatsogt ◽  
Naranchimeg Sodovsuren ◽  
Sodnomtsogt Lhagvasuren
Keyword(s):  
Familial Hypercholesterolemia ◽  
Genetic Mutations ◽  
Ldlr Gene

Screening for genetic mutations in LDLR gene with familial hypercholesterolemia patients in the Saudi population

2015 ◽  
Vol 62 (3) ◽  
pp. 559-562 ◽  
Author(s):  
Khalid Khalaf Alharbi ◽  
Tarek S. Kashour ◽  
Wejdan Al-Hussaini ◽  
May Salem Nbaheen ◽  
Rana M.W. Hasanato ◽  
...  
Keyword(s):  
Familial Hypercholesterolemia ◽  
Genetic Mutations ◽  
Saudi Population ◽  
Ldlr Gene

In-silico analysis of non- synonymous SNPs of human LDLR gene and their impact on familial hypercholesterolemia

Gene Reports ◽  
2021 ◽  
pp. 101127
Author(s):  
Pratik Ghosh ◽  
Samarpita Ghosh ◽  
Bhaskar Behera ◽  
Jiban Kumar Behera ◽  
Manojit Bhattacharya ◽  
...  
Keyword(s):  
Familial Hypercholesterolemia ◽  
In Silico ◽  
In Silico Analysis ◽  
Ldlr Gene ◽  
Synonymous Snps ◽  
Silico Analysis

Molecular basis of familial hypercholesterolemia in Brazil: Identification of seven novel LDLR gene mutations

2002 ◽  
Vol 19 (4) ◽  
pp. 462-463 ◽  
Author(s):  
Luis A. Salazar ◽  
Mario H. Hirata ◽  
Selma A. Cavalli ◽  
Edna R. Nakandakare ◽  
Neusa Forti ◽  
...  
Keyword(s):  
Familial Hypercholesterolemia ◽  
Molecular Basis ◽  
Gene Mutations ◽  
Ldlr Gene

Clinical case: The development of heterozygous familial hypercholesterolemia in a patient with rs879255191 in LDLR gene

2018 ◽  
Vol 275 ◽  
pp. e179
Author(s):  
E. Shakhtshneider ◽  
D. Ivanoshchuk ◽  
K. Makarenkova ◽  
P. Orlov ◽  
O. Timoshchenko ◽  
...  
Keyword(s):  
Familial Hypercholesterolemia ◽  
Clinical Case ◽  
Ldlr Gene ◽  
Heterozygous Familial Hypercholesterolemia

scholarly journals Identification of a novel nonsense variant c.1332dup, p.(D445*) in the LDLR gene that causes familial hypercholesterolemia

2014 ◽  
Vol 1 (1) ◽  
Author(s):  
Faisal A Al-Allaf ◽  
Mohammad Athar ◽  
Zainularifeen Abduljaleel ◽  
Abdellatif Bouazzaoui ◽  
Mohiuddin M Taher ◽  
...  
Keyword(s):  
Familial Hypercholesterolemia ◽  
Ldlr Gene

scholarly journals Mutation Analysis of the LDL Receptor Gene in Indian Families with Familial Hypercholesterolemia

2011 ◽  
Vol 2 (2) ◽  
pp. 82-86 ◽  
Author(s):  
Suyamindra S Kulkarni ◽  
Suresh Basavraj ◽  
G S Kadakol ◽  
Vandana T ◽  
Amruta Markande ◽  
...  
Keyword(s):  
Familial Hypercholesterolemia ◽  
Cholesterol Level ◽  
Mutation Analysis ◽  
Conformational Changes ◽  
Total Cholesterol Level ◽  
Ldl Receptor ◽  
Ldlr Gene ◽  
Novel Mutations ◽  
Study Results ◽  
Myocardial Infraction

Objective: Familial Hypercholesterolemia (FH) is a metabolic disorder inherited as an autosomal dominant trait characterized by an increased plasma low-density lipoprotein (LDL) level. The disease is caused by several different mutations in the LDL receptor (LDLR) gene. Several mutations have been reported in this gene in patients from several ethnic groups. Early identification of individuals carrying the defective gene could be useful in reducing the risk of atherosclerosis and myocardial infraction by the available therapeutic methods. The techniques available for determining the number of the functional LDLR molecules are difficult to carry out and expensive. Our study presents mutation analysis of the LDLR gene in 24 Indian families with FH. Material & Methods: Peripheral blood samples were obtained form individuals after taking informed consent on the condition that each of these individuals had at least one first-degree relative affected with FH. Genomic DNA was isolated, exon-specific intronic primers were designed and used to amplify DNA samples from individuals.PCR products were directly subjected to automated DNA sequencing to detect the mutations. Along with the affected individuals, ten ethnically matched controls were also analyzed to determine the presence of the same mutations. Patients with Nephrotic Syndrome admitted to hospital were excluded from the study. Results: All the 24 patients had total cholesterol level above 300 mg/dl and LDL cholesterol level above 200mg/dl. Sequence analysis of the LDL receptor (LDLR) gene showed 3 novel mutations which have never been reported elsewhere. In exon 10 we reported g.29372_29373insC, which was found in all the 24 patients and was missence mutation coding for C (cysteine) instead of V (valine). Conclusion: Our study reported 3 novel mutations in 24 Indian families. These novel mutations are predicted to produce change in the amino acid and thus leading to the conformational changes in the structure of LDLR protein. Change in the LDLR protein makes the LDL receptor unable to transport the cholesterol in to the cell and hence cholesterol starts accumulating in the blood stream and leads to FH. Key Words: Familial Hypercholesterolemia; Mutation analysis; LDL Receptor geneDOI: http://dx.doi.org/10.3126/ajms.v2i2.4573Asian Journal of Medical Sciences 2 (2011) 82-86

LDLR Gene Mutation p.Asp360His and Familial Hypercholesterolemia in a Mexican Community

2020 ◽  
Vol 51 (2) ◽  
pp. 153-159
Author(s):  
Teresita De Jesús Hernández Flores ◽  
Juan Ramón González García ◽  
Yoaly Josefina Sánchez López ◽  
Norma Alejandra Vázquez Cárdenas ◽  
Ana Gabriela Colima Fausto ◽  
...  
Keyword(s):  
Familial Hypercholesterolemia ◽  
Gene Mutation ◽  
Ldlr Gene ◽  
Mexican Community
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