Association of single nucleotide polymorphism variations in CRYAA and CRYAB genes with congenital cataract in Pakistani population

Abstract: Background: Cleft lip and palate are congenital disorders which induce affected individuals medically, socially and psychologically. The objective of this study was to investigate the association of Single Nucleotide Polymorphism(SNP); rs2013162 of IRF6 Gene in Patient with Cleft Lip and Palate. Materials and Methods: Fifty patients with non-syndromic CL/P were included in present study alongwith fifty individuals with no psychiatric history as controls. In all of the these individuals, search for Single nucleotide polymorphism was carried out by designing sequence specific primers. The sequence was amplified by using Real time PCR and products were investigated by visualizing high resolution melting curve upon HRM-PCR. Results: The logistic regression and Hardy-Weinberg equilibrium were applied to investigate the association of IRF6 SNP rs2013162 with disease. Results revealed no association of this polymorphism with non-syndromic CL/P. Conclusion: We found no association of IRF6 SNP rs2013162 in patients with non-syndromic CL/P. Further study is required with larger sample size to validate the findings of the present study in Pakistani population and along with this SNP other polymorphisms of the same gene should be analyzed to find out the association with the non-syndromic CL/P.

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Rhodium Interaction with Human NRG1 Gene of Schizophrenia

JPAIR Multidisciplinary Research ◽

10.7719/jpair.v7i1.164 ◽

2012 ◽

Vol 7 (1) ◽

Cited By ~ 1

Author(s):

Rukhsana Nawaz ◽

Erum Zahir ◽

Fatima Shad Kaneez

Keyword(s):

Single Nucleotide Polymorphism ◽

Genetic Diseases ◽

Covalent Binding ◽

Human Populations ◽

Agarose Gel Electrophoresis ◽

Nucleotide Polymorphism ◽

Single Nucleotide ◽

Pakistani Population ◽

Schizophrenic Patients ◽

Covalent Interactions

Rhodium (II) acetate [Rh2 (O2CCH3)4] could be used as an indicator for single nucleotide polymorphism (SNPs) involved in the onset of schizophrenia. Rhodium (Rh1) has affinity to make covalent interactions with neuregulin (NRG1) gene at SNPs mutation. Binding effects of Rh1 has been studied under different molar concentrations at different time periods. In this study we used Rh1 to evaluate its interaction with NRG1 gene in Schizophrenic patients of Pakistan. Rh-NRG1 adduct were amplified by PCR and visualized on agarose gel electrophoresis. Here we show Rh1 binding with NRG1 gene was inhibited with increasing concentration ranges from 0.5 -3 μM. It has been noted that upon binding with NRG1 gene Rh1 decreased the mobility and intensity of the DNA bands. Noticeably Rh1 didn’t inhibit the activity of Mun1 restriction enzyme having specific CAAA cleavage site. After the digestion of NRG1 gene having SNPs mutation combining with Rh1 proves its covalent binding only with Guanine or Thymine and not with Adenine or Cytosine. This is a novel study that shows rhodium can covalently binds with human dsDNA and can inhibit its amplification. The effect of Rh1 to target different SNPs mutations (normally occurs in genetic diseases such as schizophrenia) can be identified by using this technique. There are variations between human populations, so a SNP allele that is common in one geographical or ethnic group may be much rarer in another, and Rh1 can act as a useful tool to identify SNPs of schizophrenic genes. Keywords - Pakistani Population, Schizophrenia, Single Nucleotide polymorphism (SNP), Neuregulin(NRG1), Rhodium (Rh)

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Genetic Association of FTO rs9939609 Polymorphism with Hypertension in Pakistani Population

10.53350/pjmhs2115112985 ◽

2021 ◽

Vol 15 (11) ◽

pp. 2985-2988

Author(s):

Sobia Tabassum ◽

Sadaf Mushtaq ◽

M. Naveed Anwar ◽

H. Achakzai ◽

Naseer Ahmed ◽

...

Keyword(s):

Single Nucleotide Polymorphism ◽

Medical Condition ◽

Cross Sectional Study ◽

Nucleotide Polymorphism ◽

Cross Sectional ◽

Single Nucleotide ◽

Pakistani Population ◽

Significant Difference ◽

Mutation System ◽

Fto Rs9939609

Background: Hypertension is a medical condition that often occurs parallel to diabetes and obesity. Previously, the role of fat mass and obesity associated (FTO) gene rs9939609 polymorphism (c.46-23525T>A) with obesity has been reported while prevalence and etiological differences exist among different regions and ethnic groups. Aim: To investigate the association of FTO rs9939609 SNP with hypertension in Pakistani population. Study design: Cross-sectional study. Place and duration of study: Institute of Biomedical and Genetic Engineering (IBGE), Islamabad, Pakistan from 1st January 2019 to 31st December 2020. Methodology: One hundred and ten diagnosed hypertension patients along with 128 healthy volunteers were selected randomly. The single nucleotide polymorphism was analyzed using Amplified Refractory Mutation System-Polymerase Chain Reaction. Results: In hypertension patients, females were found to be relatively more affected and average blood pressure lies in stage 1. However, we found no significant difference in genotypic frequencies of FTO rs9939609; TT (22.6%), AA (39.6%) and AT (37.8%) and TT (17.18%), AA (39.06%), and AT (43.75%) among HT and controls, respectively. The p and OR values for risk type genotype (AA) are 0.4697 and 0.7700 (95% CI=0.3788-1.565), respectively. Subsequently, the high percentage (60.0 %) of risk genotype (AA) was found in obese-body mass index in hypertension patients. Conclusion: FTO rs9939609 single nucleotide polymorphism may not be a genetic risk factor associated with onset of hypertension directly and is linked with obesity in Pakistani patients. Keywords: FTO, Hypertension, Obesity, Pakistani patients, rs9939609

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