对代谢的先天性错误进行植入前遗传测试:来自中国生殖遗传实验室的观察
Xiaoli Li1, Qiuxiang Huang2, Fuchun Zhong3
1Department of Clinical Laboratory Medicine, Dongfang Hospital of Xiamen University, School of Medicine, Xiamen University, Fuzhou, Fujian, China.
Journal of human genetics
|November 24, 2024
概括
使用MARSALA的单一性疾病 (PGT-M) 的植入前遗传检测有效地防止了代谢先天性错误 (IEM) 的传播. 这种基因测试通过查胚胎遗传代谢疾病来确保健康的婴儿.
科学领域:
- 生殖遗传学 生殖遗传学
- 医学遗传学 医学遗传学
- 分子诊断学 分子诊断学
背景情况:
- 代谢的先天性错误 (IEMs) 代表了一大批遗传性疾病.
- 携带者夫妇面临着将IEM传播给子女的高风险.
- 针对单一性疾病的植入前遗传检测 (PGT-M) 为防止IEMs遗传提供了一个解决方案.
研究的目的:
- 评估使用MARSALA技术对单基性疾病 (PGT-M) 的植入前遗传测试的有效性.
- 为了防止风险夫妇中代谢先天性错误 (IEMs) 的传播.
- 通过产前诊断来确认PGT-M结果的准确性.
主要方法:
- 基因检测用于识别IEM中引起疾病的变异.
- 基于下一代测序 (NGS) 的MARSALA用于PGT-M的应用.
- 程序包括细胞体内精子注射,胚胎细胞培养和皮活检.
- 进行了全面的染色体查和变异基因分析.
主要成果:
- 四对携带者对IEM进行了PGT-M,包括甲基马龙酸性尿病,1型谷氨酸酸血症,β-基酶缺乏症和甲酸甲基酶缺乏症.
- 所有夫妇在PGT后都成功获得了可移植胚胎.
- 产前诊断证实了PGT-M结果,所有夫妇都分娩了健康的婴儿,没有IEM.
结论:
- 基于NGS的MARSALA是一种高效的方法,用于在受IEM影响的家庭中治疗PGT-M.
- 这种方法成功地阻止了导致IEMs的病理遗传变异的传播.
- PGT-M确保了携带者夫妇患有IEM风险的健康后代的出生.
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