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A case of rare allele T 126, 30,32 base pairs in a schizophrenic patient: A study case

Published online by Cambridge University Press:  23 March 2020

A.I. Sabau*
Affiliation:
Vasile Goldi, Western University of Arad, Arad, Romania
P. Cristina
Affiliation:
Vasile Goldi, Western University of Arad, the Institute of Life Science, Arad, Romania
B. Valerica
Affiliation:
Vasile Goldi, Western University of Arad, the Institute of Life Science, Arad, Romania
P. Delia Marina
Affiliation:
Vasile Goldi, Western University of Arad, Psychiatry Department, Emergency County clinical Hospital of Arad, Arad, Romania
*
*Corresponding author.

Abstract

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Introduction

Schizophrenia is a severe and complex disease clinically characterized by disturbed thought processes, delusions, hallucinations and reduced social skills. Gene coding for neregulin 1 (NRG 1) located in 8 p21chromosomeand single nucleotide polymorphism (SNPs) have been identified strongly supporting NRG1 gene as a susceptibility gene for schizophrenia.

Objective

The present preliminary study, determines the relationship between polymorphism nucleotide sites (SNPs2) of NRG1 gene and schizophrenia.

Aims

Identifying rare allele T of neregulin 1 genein schizophrenic patients.

Method

We analyzed the polymorphism (SNPs2) of NRG1 gene in 20 patients recruited from Psychiatry Department of Emergency Clinical Hospital of Arad diagnosed with schizophrenia according to DSM-5-TM and ICD-10 criteria and 10 healthy controls. From all subjects, we obtained 2 mL of peripheral blood samples. Genomic DNA was extracted using the phenol-chloroform method. Genotyping was performed byPCR-based RFLP analysis for all subjects. The obtained PCR product mixture was completely digested with restriction enzyme, separated on SNP1 and SNP2 agarose gel. We present the case of a 31 years old, male, schizophrenic patient with the SNPs2 polymorphism and rare allele T 126.

Results

In both groups, common allele G 127 and 60 base pairs was identified but only 2 schizophrenic patients presented rare allele T 126 and 30,32 base pairs.

Conclusions

The polymorphism SNPs2 of NRG1 gene with rare allele T 126 and 30,32 base pairs, may play a role in predisposing an individual to schizophrenia. Further and extended replicating studies with multiple sequencing of NRG1 gene are necessary.

Disclosure of interest

The authors have not supplied their declaration of competing interest.

Type
EV1188
Copyright
Copyright © European Psychiatric Association 2016
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