Screening for genetic mutations in LDLR gene with familial hypercholesterolemia patients in the Saudi population.
PMID 26345093 | DOI 10.18388/abp.2015_1015 · Acta biochimica Polonica · 2015
Familial hypercholesterolemia (FH) is caused by genetic defects involving the low density lipoprotein-receptor (LDL-R), predisposing affected people to premature atherosclerotic cardiovascular disease and death. The aim of the present study was to assess certain exons in the LDLR gene mutation detection analysis affecting in the Saudi population with FH. This case-control study was carried out with 200 subjects; 100 were FH cases and 100 were healthy controls. Five mL of venous blood samples were collected from all the subjects and used for biochemical and genetic analysis. DNA was extracted from 2 mL of the EDTA samples, and precise primers were designed for LDL-R gene which includes Exon 3, 4 and 8. PCR was followed by DNA sequencing. In our study, we found 25 mutations in cases in Exon-3 and 2 mutations in controls, however, we have found only 5 mutations in exon 4 and none of the mutations were identified in exon 8. We conclude that screening of FH among Saudi population is very important to identify individuals who are prone to develop the disease.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | LDLR | “Screening for genetic mutations in LDLR gene with familial hypercholesterolemia patients in the Saudi population.” | 0.98 | hgnc_dict_v1 |
| phenotype | familial hypercholesterolemia | “Screening for genetic mutations in LDLR gene with familial hypercholesterolemia patients in the Saudi population.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Screening for genetic mutations in LDLR gene with familial hypercholesterolemia patients in the Saudi population. The aim of the present study was to assess certain exons in the LDLR gene mutation detection analysis affecting in the Saudi population with FH. This case-control study was carried out with 200 subjects; 100 were FH cases and 100 were healthy controls. We conclude that screening of FH among Saudi population is very important to identify individuals who are prone to develop the disease.” | 0.95 | saudi_context_rules_v1 |