外体调查和候选基因再测序确定了新型外候选基因,并在疾病形成中涉及LZTR1
Ricarda Köllges1, Jil Stegmann1,2, Sophia Schneider1
1Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany.
Biomolecules
|July 29, 2023
概括
遗传分析表明LZTR1与典型的膀外缩 (CBE) 有关. 然而,克洛亚克外 (CE) 的候选基因可能不经常表明其他膀外-表皮综合体 (BEEC) 条件.
科学领域:
- 遗传学 遗传学 是一个
- 发展生物学 发展生物学
- 医学遗传学 医学遗传学
背景情况:
- 膀外 - 膀外 (BEEC) 综合体包括一系列影响腹壁,骨盆,泌尿道和生殖器的先天性异常.
- 克洛亚克外 (CE) 是BEEC频谱中最严重的形式.
研究的目的:
- 通过外基组测序和有针对性的重新测序,识别与CE和经典膀外遗症 (CBE) 相关的遗传变异.
- 研究特定基因在BEEC表型的病原发生中的作用.
主要方法:
- 用CE.的案例-父三重体的外体分析.
- 一对有CBE和epispadias的兄弟对的外体分析.
- 针对候选基因的CBE个体的大规模重新测序,包括在22q11.2区域的候选基因.
主要成果:
- 对CE三组的外体分析确定了具有de novo,自体逆向或单亲异构变异的候选基因.
- 对CBE个体的重新测序在22q11.2区域内发现了LZTR1和SLC7A4的致病变体.
- 在患有CBE的受影响兄弟姐妹对中没有发现任何候选基因.
结论:
- 这项研究进一步支持LZTR1在CBE发展中的参与.
- 在CE中识别的候选基因可能无法广泛应用于其他BEEC表型,因此需要进行单个分子分析.
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