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

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IntroductionSchizophrenia 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.ObjectiveThe present preliminary study, determines the relationship between polymorphism nucleotide sites (SNPs2) of NRG1 gene and schizophrenia.AimsIdentifying rare allele T of neregulin 1 genein schizophrenic patients.MethodWe 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.ResultsIn 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.ConclusionsThe 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 interestThe authors have not supplied their declaration of competing interest.
Title: A case of rare allele T 126, 30,32 base pairs in a schizophrenic patient: A study case
Description:
IntroductionSchizophrenia 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.
ObjectiveThe present preliminary study, determines the relationship between polymorphism nucleotide sites (SNPs2) of NRG1 gene and schizophrenia.
AimsIdentifying rare allele T of neregulin 1 genein schizophrenic patients.
MethodWe 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.
ResultsIn 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.
ConclusionsThe 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 interestThe authors have not supplied their declaration of competing interest.

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