Analysis of polymorphic markers located in the HEXA gene region associated with Tay-Sachs disease

Vahhab, Nasrin; Ebrahimi, Nader; Amirmahani, Farzane; Vallian, Sadeq

doi:10.1016/j.mgene.2020.100772

Cited by 2 publications

(1 citation statement)

References 22 publications

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“…DNA was extracted from the blood samples by the salting-out method. [15][16][17][18] The quality and quantity of the extracted DNA were evaluated by gel electrophoresis and spectrophotometry 19,20 Polymerase chain reaction (PCR) was performed using Taq DNA polymerase (Boiron, USA), 10-mM dNTP mix (Boiron, USA), 50-mM MgCl 2 solution (Boiron, USA), and primers (Pishgam, Iran) specific to MMP2 and MMP9 genes, which were designed using Primer 3 and Neb Cutter software. The PCR conditions for each gene were optimized, and PCR was performed for all the samples.…”

Section: Genotypingmentioning

confidence: 99%

Association of MMP2 and MMP9 gene polymorphisms with nonsyndromic cleft lip/palate in an Iranian population

Zahedipour,

Khorram Khorshid,

Esmaeilzadeh

et al. 2023

J Dent Res Dent Clin Dent Prospects

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Background. Cleft lip/palate (CL/P) is a prevalent congenital disorder. Matrix metalloproteinases (MMPs) play a role in palatogenesis and have been proposed to be associated with nonsyndromic CL/P development. This study aimed to examine the association of MMP2 (rs243866) and MMP9 (rs3918242) gene polymorphism with nonsyndromic CL/P in an Iranian population. Methods. Blood samples were collected from 120 nonsyndromic CL/P patients and 140 healthy newborns in this case-control study. DNA extraction was performed by the salting-out method, and the samples underwent polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP), using Pag and SphI enzymes, for genotyping MMP2 and MMP9 gene polymorphisms. Statistical analysis was performed with SPSS 11.5. Univariate and multivariate logistic regression models were used to calculate the odds ratios and 95% confidence intervals (CIs). The level of statistical significance was set at P<0.05. Results. No significant association was found between MMP2 gene polymorphism and nonsyndromic CL/P. However, the MMP9 gene polymorphism had a significant association with nonsyndromic CL/P, with a higher prevalence of the T allele and TT genotype in the case group than the control group. Conclusion. This study indicated a potential link between MMP9 gene polymorphism and nonsyndromic CL/P in an Iranian population. Future investigations with greater sample diversity and larger sample sizes are required to obtain more comprehensive and robust evidence. In-depth analyses and studies involving different ethnic groups can further enhance our understanding of the genetic underpinnings of CL/P.

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