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

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Alharbi K., Kashour T., Al-Hussaini W., Nbaheen M., Hasanato R., Mohamed S., Tamimi W., Khan I.

2015

vol. 62

issue 3

559-562

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.

Lack of association between UBE2E2 gene polymorphism (rs7612463) and type 2 diabetes mellitus in a Saudi population

100%

Alharbi K., Khan I., Al-Sheikh Y., Alharbi F., Alharbi F., Al-Nbaheen M.

2014

vol. 61

issue 4

769-772

The ubiquitin-conjugating enzyme E2E 2 (UBE2E2) gene plays an important role in insulin synthesis and secretion under conditions in which stress to the endoplasmic reticulum is increased in β-cells. In this case-control study, we have selected rs7612462 polymorphism within UBE2E2 gene to identify in a Saudi population the type 2 diabetes mellitus (T2DM) subjects. In total, 376 subjects with T2DM and 380 controls were enrolled in this study. We have collected 5 mL of peripheral blood from each participant for biochemical and molecular analyses. PCR-RFLP was used to generate genotypes at rs7612462 in all of the study subjects. Clinical data and anthropometric measurements of the patients were significantly different from those of the controls (p<0.05). All of the subjects used in this study were non-obese (25

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2 Acta Biochimica Polonica

1 2015

1 2014

2 Alharbi K.

2 Khan I.

1 Al-Hussaini W.

1 Al-Nbaheen M.

1 Al-Sheikh Y.

1 Alharbi F.

1 Hasanato R.

1 Kashour T.

1 Mohamed S.

1 Nbaheen M.

1 Tamimi W.

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

Lack of association between UBE2E2 gene polymorphism (rs7612463) and type 2 diabetes mellitus in a Saudi population