Can an Investigation of a Single Gene be Effective in Differentiating Certain Features of the Bipolar Disorder Profile?

Q2 Medicine

Clinical Practice and Epidemiology in Mental Health Pub Date : 2021-12-22 eCollection Date: 2021-01-01 DOI:10.2174/1745017902117010187

Martina Piras, Alessandra Scano, Germano Orrù, Antonio Preti, Cinzia Marchese, Goce Kalcev

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引用次数: 4

Abstract

Bipolar disorder (BD) is amongst the most common heritable mental disorders, but the clarification of its genetic roots has proven to be very challenging. Many single nucleotide polymorphisms (SNPs) have been identified to be associated with BD. SNPs in the CACNA1C gene have emerged as the most significantly associated with the disease. The aim of the present study is to provide a concise description of SNP 1006737 variants identified by Real Time PCR and confirm sequencing analysis with the Sanger method in order to estimate the association with BD. The molecular method was tested on 47 Sardinian subjects of whom 23 were found to not be mutated, 1 was found to be a carrier of the homozygous A allele and 23 were found to be carriers of the heterozygous G allele. Moreover, the positive results of the preliminary application suggest that the development of the screener could be extended to the other 5 genetic variables identified as associated with BD.

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单一基因的研究能否有效区分双相情感障碍的某些特征?

双相情感障碍(BD)是最常见的遗传性精神障碍之一，但其遗传根源的澄清已被证明是非常具有挑战性的。许多单核苷酸多态性(snp)已被确定与BD相关，CACNA1C基因的snp已被发现与该疾病最显著相关。本研究的目的是对Real Time PCR鉴定的SNP 1006737变异体进行简要描述，并用Sanger方法进行测序分析，以估计与BD的相关性。分子方法对47名撒丁岛受试者进行了测试，其中23人发现未突变，1人发现纯合a等位基因携带者，23人发现杂合G等位基因携带者。此外，初步应用的积极结果表明，筛选器的开发可以扩展到与BD相关的其他5个遗传变量。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Clinical Practice and Epidemiology in Mental Health Medicine-Psychiatry and Mental Health

CiteScore

5.30

自引率

0.00%

发文量

期刊介绍： Clinical Practice & Epidemiology in Mental Health is an open access online journal, which publishes Research articles, Reviews, Letters in all areas of clinical practice and epidemiology in mental health covering the following topics: Clinical and epidemiological research in psychiatry and mental health; diagnosis, prognosis and treatment of mental health conditions; and frequencies and determinants of mental health conditions in the community and the populations at risk; research and economic aspects of psychiatry, with special attention given to manuscripts presenting new results and methods in the area; and clinical epidemiologic investigation of pharmaceutical agents. Clinical Practice & Epidemiology in Mental Health, a peer reviewed journal, aims to provide the most complete and reliable source of information on current developments in the field. The emphasis will be on publishing quality articles rapidly and freely available worldwide.