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Updated: Jul 10, 2025

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
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A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

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SNP阵列查和基于长距离PCR的针对性下一代对血缘亲属性自体逆向性疾病的测序:来自Xeroderma PigmentosumC组病例的洞察力

Fumie Nomura1, Akira Shimizu1, Sumihito Togi2,3

  • 1Department of Dermatology, Kanazawa Medical University, Uchinada 920-0293, Japan.

Genes
|November 25, 2023
PubMed
概括

这项研究提出了一种简化的基因测试策略,用于血缘亲属家庭的自体逆向性疾病. 使用SNP阵列和目标下一代测序 (NGS),它可以实现快速诊断,例如Xeroderma pigmentosum (XP) 组C.

关键词:
这是一个SNP阵列阵列.自体逆行性自体逆行性.血缘关系是一种血缘关系.这是一种异构体 (isodisomy).基于PCR的长距离NGS基于PCR的NGS.色素 (xeroderma pigmentosum) 属于C组的一种.

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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