Extraction of genomic DNA for sequencing from snail Helix lucorum.

IF 2.9 4区 生物学 Q1 EDUCATION & EDUCATIONAL RESEARCH
Journal of Genetics Pub Date : 2024-01-01
Dmitry Panteleev, Anastasia Sadova, Galina Pavlova
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引用次数: 0

Abstract

Genomic studies make it possible to breakthrough in many fields such as biochemistry, physiology, phylogenetics, etc., though they are unworkable without sequences of genomic DNA of an organism. The terrestrial mollusks’ genomes would benefit gastropod biology investigations, that are unavailable so far due to problems in DNA integrity and quality after the isolation procedures. Here we describe a fast and handy protocol for genomic DNA extraction from the tissues of Helix lucorum, which allows to yield high-quality samples applicable for downstream analysis such as high-throughput DNA sequencing. Troubleshooting revealed the nuclease activity of snail tissue lysate, which may be avoided by heating the lysate and decreasing the incubation time.

从蜗牛 Helix lucorum 提取基因组 DNA 进行测序。
过去,对于涉及 15q26 染色体微缺失(包括 CHD2)的病例,没有容易识别的特征作为临床和基因诊断的指导。本研究分析了临床数据,并采集了一名儿科患者及其健康家庭成员的静脉血样本进行 DNA 检测。全外显子组测序采用新一代测序技术(NGS)进行。基于 NGS 对染色体拷贝数变异进行了检测。我们回顾了所有影响 CHD2 的染色体微缺失病例。我们的患者是一名 11.6 岁的男孩,在 15q25.3-15q26.1 发现了一个新的 5.82-Mb 缺失,其中包括 CHD2。我们首先发现拉莫三嗪对控制该患者的难治性癫痫发作有惊人的疗效。这些病例有发育迟缓、行为问题、癫痫、多发性异常等。涉及 15q26 缺失(包括 CHD2)的个体在面部特征和多种发育异常方面的表型差异很大。我们首次在涉及 CHD2 的染色体微缺失患者中发现了发育迟缓、行为问题、癫痫、可变骨骼和肌肉异常、可变多系统异常和特征性颅面表型等特殊临床实体。包括 CHD2 在内的 15q26 染色体较大缺失往往会导致典型的表型。典型表型的特征性颅面外观是面中部发育不良和面周突出。
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
Journal of Genetics
Journal of Genetics 生物-遗传学
CiteScore
3.10
自引率
0.00%
发文量
72
审稿时长
1 months
期刊介绍: The journal retains its traditional interest in evolutionary research that is of relevance to geneticists, even if this is not explicitly genetical in nature. The journal covers all areas of genetics and evolution,including molecular genetics and molecular evolution.It publishes papers and review articles on current topics, commentaries and essayson ideas and trends in genetics and evolutionary biology, historical developments, debates and book reviews. From 2010 onwards, the journal has published a special category of papers termed ‘Online Resources’. These are brief reports on the development and the routine use of molecular markers for assessing genetic variability within and among species. Also published are reports outlining pedagogical approaches in genetics teaching.
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