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Updated: Jul 5, 2025

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基于SNP阵列技术的Xp22.31q27.1区域变异检测的分析

Lijuan Xu, Kangying Wang, Ben Liu

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    PubMed
    概括

    单核酸多态阵列 (SNP阵列) 技术可以有效地检测胎儿染色体微删除和微重复,而传统方法无法检测到. 这种先进的SNP阵列分析为产前诊断提供了宝贵的补充工具.

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    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.
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    A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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