产前诊断和基因病因分析 talipes equinovarus 通过染色体微阵列分析
Xiaorui Xie1, Baojia Huang2, Linjuan Su1
1Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Provincial Maternity and Children's Hospital, No. 18 Daoshan Road, Gulou District, Fuzhou, 350001, China.
BMC medical genomics
|November 21, 2023
概括
染色体微阵列分析 (CMA) 显著改善了对胎儿的基因异常的检测. 推CMA用于产前诊断,特别是在复杂的TE病例中,提供比传统的型化更高的诊断产量.
科学领域:
- 医学遗传学 医学遗传学
- 产前诊断 在产前诊断
- 胎儿医学 胎儿医学
背景情况:
- 胎儿形同类病毒 (TE) 越来越多地与染色体异常有关,包括微切除和微重复,超出了简单的形状.
- 分子技术使得对TE的遗传基础的理解得到了进一步的发展.
研究的目的:
- 使用染色体微阵列分析 (CMA) 调查胎儿TE的分子病因.
- 通过提供全面的遗传信息,加强TE的临床查和遗传咨询.
主要方法:
- 通过超声波检查诊断出TE的131名胎儿的回顾性分析.
- 进行了传统的型和单核酸多态 (SNP) 阵列分析.
- 根据额外的结构异常,胎儿被分为孤立的TE (n=55) 和复杂的TE (n=76) 组.
主要成果:
- SNP 阵列检测到 20.6% 的异常,明显高于 karyotyping (9.2%).
- CMA确定了11.5%的亚微观染色体异常被kariotyping遗漏,其中22q11.2微删除是最常见的.
- 与双边TE相比,复杂的TE病例和单边TE的胎儿的检测率更高.
结论:
- 胎儿TE与染色体微切除和微重复有关.
- 使用CMA进行产前诊断建议对TE胎儿进行诊断,特别是在复杂的病例中,因为它具有较高的染色体异常检测率.
关键词:
染色体是什么 染色体是什么 染色体是什么副本数量的变化 副本数量的变化型化 (Karyotyping) 是一种方法.单核酸多态系数组是一个单核酸多态系数组.塔利普斯 (Talipes equinovarus) 是一种类型的动物.更多相关视频
09:16Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
19.7K
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
8.6K
相关概念视频
Pedigree Analysis
84.3K
Overview
84.3K
DNA Microarrays
17.5K
Microarrays are high-throughput and relatively inexpensive assays that can be automated to analyze large quantities of data at a time. They are used in genome-wide studies to compare gene or protein expression under two varied conditions, such as healthy and diseased states. Microarrays consist of glass or silica slides on which probe molecules are covalently attached through surface functionalization. Most commonly, the slides are prepared through the chemisorption of silanes to silica...
17.5K
Genomic Imprinting and Inheritance
34.6K
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
34.6K
