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对潜在的副本数变异和与第一季度流产遗漏相关的基因的分析

Wen Zeng¹, Hong Qi¹, Yang Du²

¹Prenatal Diagnosis Center, Haidian District Maternal and Child Health Care Hospital, No.53 Suzhou Street, Haidian District, Beijing 100080, PR China.

|August 18, 2023

概括

早期妊娠损失的副本数变异 (CNVs) 通过使用CNV测序来探索. 确定了四个特定的CNV区域和三个基因 (MYOM2,SDHA,TPPP) 可能与流产错过有关.

科学领域:

遗传学是一个遗传学.
生殖医学生殖医学
基因组分析基因组分析

背景情况:

拷贝数变异测序 (CNV-seq) 是有效的染色体拷贝数变异 (CNVs) 在产前和产后病例.
遗漏堕胎 (MA) 中的CNV的特征仍然在很大程度上未被探索.

研究的目的:

为了调查第一季度流产中遗漏的CNV的特征.
为了确定潜在的候选CNV和与第一季度MA相关的基因.

主要方法:

追溯分析CNV-seq从第一季度MA病例的结果.
排除影响胚胎植入和发育的因素.
在最小重叠区域 (SOR) 上进行基因本体学和KEGG丰富分析.

主要成果:

分析了152个样本;77个 (50.7%) 有染色体异常,32个 (21%) 有单独的CNVs.
已经确定了45个CNV (300Kb126.56Mb),包括细分动脉和亚微观CNV.
已经确定了四个SOR (5q31.3,5p15.33-p15.2,8p23.3-p23.2,8q22.2-24.3) 和16个候选基因,包括MYOM2,SDHA和TPPP.

结论:

确定了与第一季度MA相关的潜在候选CNVs (5q31.3重复,5p15.33-p15.2删除,8p23.3-p23.2删除,8q22.2-p24.3重复).
MYOM2,SDHA和TPPP被突出显示为潜在的基因,与第一季度流产错过有关.

关键词:

复制数变化序列的复制数变化序列.这就是MYOM2的原因.错过的堕胎错过了堕胎 SDHA SDHA SDHA SDHA SDHA SDHA SDHA SDHA SDHA SDHA SDHA SDHA SDHA SDHA SDHA SDHA SDHA SDHA SDHA SDHA SDHA SDHA 这就是TPPP的TPPP.

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Comparing Copy Number Variations and SNPs

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...