Piras Martina, Scano Alessandra, Orrù Germano, Preti Antonio, Marchese Cinzia, Kalcev Goce
Innovation Sciences and Technologies, University of Cagliari, Cagliari, Italy.
Department of Surgical Science, Molecular Biology Service Lab,, University of Cagliari, Cagliari, Italy.
Clin Pract Epidemiol Ment Health. 2021 Dec 22;17:187-189. doi: 10.2174/1745017902117010187. eCollection 2021.
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.
双相情感障碍(BD)是最常见的遗传性精神障碍之一,但事实证明,阐明其遗传根源极具挑战性。许多单核苷酸多态性(SNP)已被确定与BD相关。CACNA1C基因中的SNP已成为与该疾病关联最为显著的SNP。本研究的目的是简要描述通过实时聚合酶链反应(PCR)鉴定的SNP 1006737变体,并使用桑格法进行测序分析以确认,从而评估其与BD的关联。该分子方法在47名撒丁岛受试者身上进行了测试,其中23人未发生突变,1人是纯合A等位基因携带者,23人是杂合G等位基因携带者。此外,初步应用的阳性结果表明,该筛查工具的开发可以扩展到其他5个被确定与BD相关的基因变量。