A method for improving the efficiency of DNA extraction from clotted blood samples

Mardan-Nik, Maryam; Soflaei, Sara Saffar; Biabangard‐Zak, Atefeh; Asghari, Mahla; Saljoughian, Sania; Tajbakhsh, Amir; Meshkat, Zahra; Ferns, Gordon A.; Pasdar, Alireza; Ghayour‐Mobarhan, Majid

doi:10.1002/jcla.22892

Cited by 28 publications

(23 citation statements)

References 18 publications

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“…Blood samples of six affected and one unaffected individual were collected, and genomic DNA was isolated from peripheral blood leukocytes using the QIAamp DNA Blood kit (Qiagen, Hilden, Germany), according to the manufacturer's protocol [ 16 ].…”

Section: Methodsmentioning

confidence: 99%

A Novel NCSTN Mutation in a Three-Generation Chinese Family with Hidradenitis Suppurative

Liu

Wang

et al. 2022

Journal of Healthcare Engineering

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Objective. Hidradenitis suppurativa (HS) is a rare autosomal dominant condition characterized by inflamed nodules, cysts, deep abscesses, draining sinuses in the axillae, inguinal, and anogenital regions. Mutations in the NCSTN gene have been perceived to be responsible for the major underlying changes in the disorder. The purpose of this study is to identify a novel gene mutation in a Chinese family with HS. Methods. A Chinese family with HS present was investigated. The proband had manifested with multiple draining sinuses on the posterior neck, chest, bilateral axillae, and perineal regions. DNA was isolated from the peripheral blood of the family members. The encoding exons with introns of the NCSTN gene were analyzed by polymerase chain reactions (PCR) and direct DNA sequencing. Sanger sequencing was performed to confirm the next-generation sequencing results and to analyze each mutation’s familial segregation. Furthermore, the identified mutation was localized onto a 3D structure model using the DeepView Swiss-PdbViewer 4.1 software. Results. In this family comprising 10 HS patients, one novel mutation of the NCSTN gene was identified, involving a deletion mutation (c.447delC(p.N150Ifs ∗ 52)) in the NCSTN gene resulting in a frameshift and the new formation of a hydrogen bond. Conclusion. Our study reports the identification of a novel mutation that causes familial HS and could expand the spectrum of mutations in the γ-secretase genes underlying HS.

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Section: Methodsmentioning

confidence: 99%

A Novel NCSTN Mutation in a Three-Generation Chinese Family with Hidradenitis Suppurative

Liu

Wang

et al. 2022

Journal of Healthcare Engineering

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“…In order to extract the DNA, approximately 10 millilitres (ml) of peripheral blood was obtained from all participants and immediately subdivided into tubes containing sterile ethylene diamine tetra acetic acid (EDTA) [ 27 ]. DNA extraction from whole blood was extracted using salting-out technique.…”

Section: Methodsmentioning

confidence: 99%

Association of PICK1 and BDNF variations with increased risk of methamphetamine dependence among Iranian population: a case–control study

et al. 2021

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Background Genetic factors play an important role in susceptibility to methamphetamine dependency. In this line, protein that interact with C-kinase-1 (PICK1) and brain-derived neurotrophic factor (BDNF) genes are linked to methamphetamine dependence (substance use disorder). Thus, in a case–control study, we investigated the association between polymorphisms of PICK1 and BDNF genes and methamphetamine dependence in an Iranian population. Methods Total of 235 cases and 204 controls were recruited in a period between 2015 to 2018. The PICK1-rs713729, -rs2076369 and BDNF-rs6265 genotypes were determined via ARMS-PCR assay. Statistical analysis was performed, using SPSS 20.0, PHASE 2.1.1 program as well as SNP Analyzer 2.0. Results In the present study, two polymorphisms including PICK1-rs713729 (OR 1.38 (CI 1.08–1.52; P-value 0.004) in multiplicative and dominant models, and PICK1-rs2076369 (OR 1.31 (CI 1.10–1.56; P-value 0.002) in multiplicative, dominant and co-dominant models were associated with the risk of methamphetamine abuse. Moreover, haplotype analysis showed a significant association of haplotype AG (OR 2.50 (CI 1.50–4.16; P-value 0.0002) in dominant, recessive and co-dominant models, and haplotype TT (OR 0.67 (CI 0.50–0.91; P-value 0.009) in dominant and co-dominant models with the risk of methamphetamine abuse. None of the polymorphisms in this study had a high level of linkage disequilibrium. Conclusion Our findings indicate that the PICK1 gene polymorphism might affect the risk of methamphetamine dependency in our population.

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“…DNA of all subjects extracted from a whole blood sample using a standard method of salting‐out extraction. 31 Control of extracted DNA quality determined using electrophoresis of agarose gel (Pars Tous Biotechnology). These quantitative determined applying NanoDrop 1000 Detector in Wavelength of 280 and 260‐nm.…”

Section: Methodsmentioning

confidence: 99%

Association of ANGPTL3 polymorphisms with high‐density lipoprotein cholesterol uptake capacity in patients with cardiovascular disease

Aghasizadeh

Nosrati

Saberi‐Karimian

et al. 2021

Clinical Laboratory Analysis

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Introduction Previous studies have shown the importance of angiopoietin‐like 3 (ANGPTL3) as a modulator of lipid profiles. Cholesterol uptake capacity (CUC) is one means for assessing high‐density lipoprotein (HDL) functionality. This study for the first time has investigated the relationship between genetic ANGPTL3 polymorphism and CUC in patients with cardiovascular disease. Methods Five hundred three subjects comprising 350 healthy subjects and 153 individuals who developed a cardiovascular disease (CVD) event during follow‐up were recruited as part of the Mashhad Stroke and Heart Atherosclerotic Disorder (MASHAD) cohort study. A modified CUC method was used to determine the CUC of serum samples. Applied amplification refractory mutation system PCR was performed for ANGPTL3 variants genotyping including: rs10789117, rs1748195, and rs11207997. Sanger sequencing was applied to confirm the genotypes. Results The results showed that there was a significant relationship between the rs1748195 genotypes and HDL concentration in the CVD group (p = 0.02). Moreover, individuals with a GG genotype of the rs1748195 were associated with a lower risk of CVD (OR = 0.49, 95% CI = 0.24–0.98, p = 0.04) compared with CC genotype in the CUC ≤ 1.7 a.u subgroup. Moreover, the CT genotype of rs11207997 was associated with a lower risk of CVD (OR = 0.74, 95% CI = 0.41–1.3, p = 0.01) compared with CC genotype in CUC > 1.7 a.u subgroup. Conclusion The results showed that the CT genotype of the rs11207997 variant was associated with a lower risk of incident CVD in patients with higher HDL functionality. As well, the rs1748195 gene variant may contribute to a reduced risk of CVD.

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A method for improving the efficiency of DNA extraction from clotted blood samples

Cited by 28 publications

References 18 publications

A Novel NCSTN Mutation in a Three-Generation Chinese Family with Hidradenitis Suppurative

A Novel NCSTN Mutation in a Three-Generation Chinese Family with Hidradenitis Suppurative

Association of PICK1 and BDNF variations with increased risk of methamphetamine dependence among Iranian population: a case–control study

Association of ANGPTL3 polymorphisms with high‐density lipoprotein cholesterol uptake capacity in patients with cardiovascular disease

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