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在中国开启SCID新生儿查,通过全外体序列测序检测新的外体基因变异

Xiao Yang1, JianHu He2, Wei Peng1

  • 1Faculty of Pediatrics, the Chinese PLA General Hospital, Beijing, China; Institute of Pediatrics, the Seventh Medical Center of PLA General Hospital, Beijing, China; National Engineering Laboratory for Birth defects prevention and Control of key technology, Beijing, China; Beijing Key Laboratory of Pediatric Organ Failure, Beijing, China.

International immunopharmacology
|June 22, 2024
PubMed
概括

严重联合免疫缺陷 (SCID) 在新生儿中具有很高的检测率. 整体外体测序发现了MUC6等关键基因突变,这对于开发新的SCID诊断方法至关重要.

关键词:
亚丁氨酸脱氨酶的使用前代遗传变异的前代遗传变异.在MUC6中,MUC6是严重的联合免疫缺陷.整体外基因组的测序

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Comparing Copy Number Variations and SNPs02:26

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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.
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%...