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使用光学基因组映射检测复杂的染色体重组

Jiangbo Qu¹, Shuo Li², Dongyi Yu¹

¹Center for Medical Genetics and Prenatal Diagnosis, Key Laboratory of Birth Defect Prevention and Genetic Medicine of Shandong Health Commission, Key Laboratory of Birth Regulation and Control Technology of National Health Commission of China, Shandong Provincial Maternal and Child Health Care Hospital Affiliated to Qingdao University, Jinan 250014, Shandong, China.

|August 5, 2023

概括

光学基因组映射 (OGM) 与当前的常规诊断 (CRD) 相比,可以更好地检测复杂的染色体结构变异 (SV). 转基因生物提高了遗传疾病诊断的准确性,尽管在重复丰富的地区,对于SVs可能需要FISH或卡里奥类型.

科学领域:

遗传学遗传学是一个
基因组学就是基因组学.
分子生物学分子生物学

背景情况:

染色体结构变异 (SVs) 是人类遗传疾病的重要贡献者.
目前的常规诊断 (CRD),包括型,CMA和FISH,在检测复杂和神秘的SVs方面存在局限性.

研究的目的:

评估光学基因组映射 (OGM) 对复杂染色体SVs的适用性和诊断性能.
将OGM的SV检测能力与已建立的CRD方法进行比较.

主要方法:

七名患有复杂SV的患者使用OGM进行了分析.
将转基因生物的结果与CRD的结果进行了比较.
使用FISH,下一代测序和桑格测序进行验证.

主要成果:

在五个样本中检测到所有断点 (BPs),在两个样本中检测到部分BPs,在重复丰富区域附近没有检测到BPs.
转基因生物发现了额外的SVs,包括一个神秘的平衡转位和两个复杂的染色体重排 (CCR).
转基因生物提供了关于碎片方向,BP位置和映射基因的详细信息.

结论:

与CRD相比,OGM在检测染色体SV方面表现优越.
应该考虑对转基因生物进行临床检查,以提高遗传疾病诊断的效率和准确性.
在具有挑战性的基因组区域中,可能需要FISH或kariyotyping来补充对SVs的转基因.

关键词:

断层点断层点断层点染色体结构变异的变体复杂的染色体重新安排.光学基因组映射 (OGM) 是一种方法.

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相关概念视频

Karyotyping

Karyotyping

FISH - Fluorescent In-situ Hybridization

FISH - Fluorescent In-situ Hybridization

Fluorescence in situ hybridization, or FISH, was developed in the early 1980s and has quickly become one of the most widely used techniques in cytogenetics. Labeled probes are used to bind complementary DNA or RNA sequences on a chromosome or in a region within a cell. Earlier, the probes could only be obtained by cloning or reverse transcription of a DNA template. Currently, the probe oligonucleotides can be synthesized synthetically. Additionally, with the advancement of optical techniques,...