面肩肱型肌营养不良
SNP公司
肌营养不良
放大器
遗传学
SNP阵列
产前诊断
医学
更安全的
计算生物学
生物信息学
生物
计算机科学
怀孕
单核苷酸多态性
聚合酶链反应
胎儿
基因型
基因
计算机安全
作者
Xinyu Fu,Zhenhua Zhao,Lingrong Kong,Shaojun Li,Feifei Li,Xiaodong Han,Luming Sun,Di Wu,Yanan Wang,Xiangdong Kong
摘要
Abstract The study is to explore the feasibility and value of SNP‐based noninvasive prenatal diagnosis (NIPD) for facioscapulohumeral muscular dystrophy type 1 (FSHD1) in early pregnancy weeks. We prospectively collected seven FSHD1 families, with an average gestational age of 8 +6 . Among these seven couples, there were three affected FSHD1 mothers and four affected fathers. A multiplex‐PCR panel comprising 402 amplicons was designed to selective enrich for highly heterozygous SNPs upstream of the DUX4 gene. Risk haplotype was constructed based on familial linkage analysis. Fetal genotypes were accurately inferred through relative haplotype dosage analysis using Bayes Factor. All tests were successfully completed in a single attempt, and no recombination events were detected. NIPD results were provided within a week, which is 4 weeks earlier than karyomapping and 7 weeks earlier than Bionano single‐molecule optical mapping (BOM). Ultimately, five FSHD1 fetuses and two normal fetuses were successfully identified, with a 100% concordance rate with karyomapping and BOM. Therefore, SNP‐based NIPD for FSHD1 was demonstrated to be feasible and accurate in early weeks of gestation, although the risk of recombination events cannot be completely eliminated. In the future, testing of more cases is still necessary to fully determine the clinical utility.
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