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Targeted linked-read sequencing for direct haplotype phasing of maternal DMD alleles: a practical and reliable method for noninvasive prenatal diagnosis.
Jang, Se Song; Lim, Byung Chan; Yoo, Seong-Keun; Shin, Jong-Yeon; Kim, Ki-Joong; Seo, Jeong-Sun; Kim, Jong-Il; Chae, Jong Hee.
Afiliação
  • Jang SS; Department of Biomedical Sciences, Seoul National University Graduate School, Seoul, Korea.
  • Lim BC; Department of Biochemistry and Molecular Biology, Seoul National University College of Medicine, Seoul, Korea.
  • Yoo SK; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea.
  • Shin JY; Institute of Reproductive Medicine and Population, Medical Research Center, Seoul National University, Seoul, Korea.
  • Kim KJ; Gong Wu Genomic Medicine Institute, Seoul National University Bundang Hospital, Bundang-Gu, Seongnam-Si, Kyunggi-Do, Korea.
  • Seo JS; Genomic institute, Macrogen Inc., Seoul, Korea.
  • Kim JI; Genomic institute, Macrogen Inc., Seoul, Korea.
  • Chae JH; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea.
Sci Rep ; 8(1): 8678, 2018 06 06.
Article em En | MEDLINE | ID: mdl-29875376
For the noninvasive prenatal diagnosis (NIPD) of X-linked recessive diseases such as Duchenne muscular dystrophy (DMD), maternal haplotype phasing is a critical step for dosage analysis of the inherited allele. Until recently, the proband-based indirect haplotyping method has been preferred despite its limitations for use in clinical practice. Here, we describe a method for directly determining the maternal haplotype without requiring the proband's DNA in DMD families. We used targeted linked-read deep sequencing (mean coverage of 692×) of gDNA from 5 mothers to resolve their haplotypes and predict the mutation status of the fetus. The haplotype of DMD alleles in the carrier mother was successfully phased through a targeted linked-read sequencing platform. Compared with the proband-based phasing method, linked-read sequencing was more accurate in differentiating whether the recombination events occurred in the proband or in the fetus. The predicted inheritance of the DMD mutation was diagnosed correctly in all 5 families in which the mutation had been confirmed using amniocentesis or chorionic villus sampling. Direct haplotyping by this targeted linked-read sequencing method could be used as a phasing method for the NIPD of DMD, especially when the genomic DNA of the proband is unavailable.
Assuntos

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Diagnóstico Pré-Natal / Distrofina / Distrofia Muscular de Duchenne Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Pregnancy Idioma: En Ano de publicação: 2018 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Diagnóstico Pré-Natal / Distrofina / Distrofia Muscular de Duchenne Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Pregnancy Idioma: En Ano de publicação: 2018 Tipo de documento: Article