A feasibility study of noninvasive prenatal diagnosis in facioscapulohumeral muscular dystrophy type 1 in a Chinese family

A feasibility study of noninvasive prenatal diagnosis in facioscapulohumeral muscular dystrophy type 1 in a Chinese family

Objective: To demonstrate the feasibility of haplotype-based noninvasive prenatal diagnosis of Facioscapulohumeral Muscular Dystrophy type 1 (FSHD1).Methods: Bionano optical mapping was used to identify the D4Z4 structural variation of the genomic DNA sample from the proband affected with FSHD1. In...

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Bibliographic Details
Main Authors: Yayun Qin, Hui Xu, Jingmin Yang, Yiming Wu, Hui Li, Bo Wang, Lijun Liu, Ding Ren, Runhong Xu, Manman Li, Chengcheng Zhang, Jieping Song
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-10-01
Series:Frontiers in Genetics
Subjects:
haplotype
cell-free fetal DNA
BioNano optical mapping
noninvasive prenatal diagnosis
facioscapulohumeral muscular dystrophy type 1 (FSHD1)
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.1046096/full

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https://www.frontiersin.org/articles/10.3389/fgene.2022.1046096/full

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