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唾液采样用于分子检测与双相情感障碍相关的基因变异的效用。

Usefulness of salivary sampling for the molecular detection of a genetic variant associated with bipolar disorders.

作者信息

Scano Alessandra, Kalcev Goce, Piras Martina, Fais Sara, Cossu Giulia, Gonzalez Cesar Ivan Aviles, Carta Mauro Giovanni, Orrù Germano

机构信息

Department of Surgical Sciences, University of Cagliari, Cagliari, Italy.

International PhD in Innovation Sciences and Technology, University of Cagliari, Cagliari, Italy.

出版信息

J Public Health Res. 2023 Mar 23;12(1):22799036221146915. doi: 10.1177/22799036221146915. eCollection 2023 Jan.

Abstract

Under certain conditions, the hyperthymic temperament traits associated with an increased risk of developing bipolar disorders may in fact produce adaptive responses. The purpose of this study is to see if the type of biological material used for genetic analysis (saliva or blood) affects the detection of mutations in the CACNA1C (RS1006737) gene. The first experimental group consisted of Sardinian migrants ("volunteers") in South American and European megacities. The second experimental group consisted of older healthy subjects with hyperactivity and novelty-seeking characteristics from Cagliari, Italy. The genetic procedure included DNA extraction, real-time PCR, and the Sanger method. Nonetheless, the authors believe that saliva is the most appropriate biological material, given its many advantages. In contrast to blood, saliva can be collected by any type of healthcare provider after following a few simple instructions.

摘要

在某些情况下,与双相情感障碍发病风险增加相关的情感增盛型气质特征实际上可能会产生适应性反应。本研究的目的是探究用于基因分析的生物材料类型(唾液或血液)是否会影响CACNA1C(RS1006737)基因突变的检测。第一个实验组由南美洲和欧洲大城市中的撒丁岛移民(“志愿者”)组成。第二个实验组由来自意大利卡利亚里的具有多动和寻求新奇特征的老年健康受试者组成。基因检测程序包括DNA提取、实时聚合酶链反应和桑格法。尽管如此,作者认为唾液是最合适的生物材料,因为它有许多优点。与血液不同,遵循一些简单的指导后,任何类型的医疗服务提供者都可以采集唾液。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c312/10037733/c37c8d498483/10.1177_22799036221146915-fig1.jpg

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