双边细胞发生的遗传病因
Gregory W Kirschen1, Karin Blakemore1, Huda B Al-Kouatly2
1Division of Maternal-Fetal Medicine, Department of Gynecology and Obstetrics, The Johns Hopkins Hospital, Baltimore, Maryland, USA.
Prenatal diagnosis
|January 5, 2024
概括
双边代 (BRA) 与许多遗传原因有关,包括染色体异常和单基因疾病. 先进的基因测序将进一步阐明BRA.的遗传基础.
科学领域:
- 医学遗传学 医学遗传学
- 发展生物学 发展生物学
- 泌尿器科 泌尿器科 泌尿器科 泌尿器科
背景情况:
- 双边生病 (BRA) 是一种严重的先天性疾病,其特点是缺少两个.
- 了解BRA的遗传基础对于诊断,遗传咨询和潜在的治疗策略至关重要.
研究的目的:
- 进行对双边衰老 (BRA) 医学文献的全面审查.
- 总结与BRA相关的已知遗传病因,包括染色体异常和单基因疾病.
- 根据遗传发现,相关异常和诊断时间来对BRA病例进行分类.
主要方法:
- 对医学文献进行了范围审查,使用数据库,如在线曼德尔遗传在人,PubMed和Cochrane.
- 确定并分析了BRA病例的潜在遗传原因 (染色体与单基因) 和综合征关联.
- 收集和分类了孤立与非孤立BRA的数据,额外的发现,遗传模式和诊断时间.
主要成果:
- 确定了6种细胞遗传异常和21种与20种导致BRA的单基因疾病相关的基因.
- 五个基因与BRA完全相关,而其他16个基因与BRA和单边细胞发生有关.
- 确定了六种遗传病因不明的综合征,突出显示BRA经常与其他泌尿器官异常和多系统综合征一起出现.
结论:
- BRA是由各种遗传因素引起的,包括染色体异常和单一性综合征.
- 越来越多地使用外体和全基因组测序预计将大大提高对BRA遗传结构的理解.
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