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Updated: Jul 8, 2025

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围产期母亲对基因组新生儿查的看法

Bernarda Prosenc1,2, Mojca Cizek Sajko1, Gorazd Kavsek3

  • 1Clinical Institute for Genomic Medicine, University Medical Center Ljubljana, Ljubljana, Slovenia.

European journal of human genetics : EJHG
|December 19, 2023
PubMed
概括

斯洛文尼亚的母亲强烈支持基因组新生儿查 (gNBS),大多数愿意分享数据并为成本做出贡献. 然而,对遗传信息对家庭和社会生活的影响的担忧需要解决.

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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...
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