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鉴定家族多重异常性宫根再吸收的候选基因

Koichiro Muromachi¹, Kazuyoshi Hosomichi², Heetae Park³

¹Department of Endodontics, Graduate School of Dentistry, Kanagawa Dental University, Yokosuka, Kanagawa, Japan.

Journal of endodontics

|September 24, 2023

概括

基因分析发现了与多种异常性宫根再吸收 (MICRR) 相关的基因中的新型变异,这是一个原因不明的疾病. 这些发现为侵袭性宫根再吸收的病变产生提供了新的见解.

科学领域:

遗传学是一个遗传学.
口腔病理学口腔病理学
分子生物学分子生物学

背景情况:

多重异常性宫根再吸收 (MICRR) 是一种鲜为人知的疾病,导致侵袭性宫根再吸收.
之前的基因组研究已经确定了候选基因变异,但病因仍然不清楚.

研究的目的:

为了调查MICRR的遗传因果关系.
识别与MICRR相关的新型候选基因变异.

主要方法:

整个外体序列测序是在一个具有MICRR的主要传播家族的唾液样本上进行的.
用桑格测序证实了候选变体.

主要成果:

在MICRR中发现了10种新的候选基因变异.
根据ACMG/AMP指南,DCCL1和DEFB114的变异被归类为"致病",SLC45A2的变异被归类为"可能致病".

结论:

鉴定到的变种为MICRR.的病原发生提供了新的见解.
这些变体可以用于进一步研究侵袭性宫根吸收.

关键词:

侵入性的宫根再吸收.桑格尔测序是什么意思多重异常性宫根再吸收.整体外因子测序的测序

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