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

Khalid Khalaf Alharbi; Tarek S Kashour; Wejdan Al-Hussaini; May Salem Nbaheen; Rana M W Hasanato; Sarar Mohamed; Waleed Tamimi; Imran Ali Khan

Khalid Khalaf Alharbi Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud University, P.O. Box 10219, Riyadh 11433, Kingdom of Saudi Arabia.;
Tarek S Kashour Department of Cardiac Sciences, College of medicine, King Fahad Cardiac Center, King Saud University, P.O. Box 7805 (92), Riyadh 11472, Kingdom of Saudi Arabia.;
Wejdan Al-Hussaini Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud University, P.O. Box 10219, Riyadh 11433, Kingdom of Saudi Arabia; Stem Cell Units, Anatomy Department, College of Medicine, King Khalid University Hospital, Riyadh, Kingdom of Saudi Arabia.;
May Salem Nbaheen Stem Cell Units, Anatomy Department, College of Medicine, King Khalid University Hospital, Riyadh, Kingdom of Saudi Arabia; Preparatory Year-Saudi Electronic University, Riyadh, Saudi Arabia.;
Rana M W Hasanato Department of Pathology, College of medicine, King Saud University, King Khalid University Hospital, P.O. Box 66533, Riyadh 11586, Kingdom of Saudi Arabia.;
Sarar Mohamed Department of Pediatrics, King Khalid University Hospital and College of medicine, King Saud University, P.O. Box 2925, Riyadh 11461, Kingdom of Saudi Arabia.;
Waleed Tamimi Department of Pathology & Laboratory Medicine, King Fahad National Guard Hospital, Riyadh, Saudi Arabia; College of Medicine King Saud Bin Abdulaziz University for Health Sciences, P.O. Box 22490, Riyadh 11426, Saudi Arabia.;
Imran Ali Khan Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud University, P.O. Box 10219, Riyadh 11433, Kingdom of Saudi Arabia.;

Abstract

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.