Academic Journal
A long-read sequencing and SNP haplotype-based novel preimplantation genetic testing method for female ADPKD patient with de novo PKD1 mutation
| العنوان: | A long-read sequencing and SNP haplotype-based novel preimplantation genetic testing method for female ADPKD patient with de novo PKD1 mutation |
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| المؤلفون: | Cuiting Peng, Han Chen, Jun Ren, Fan Zhou, Yutong Li, Yuezhi Keqie, Taoli Ding, Jiangxing Ruan, He Wang, Xinlian Chen, Shanling Liu |
| المصدر: | BMC Genomics, Vol 24, Iss 1, Pp 1-9 (2023) |
| بيانات النشر: | BMC, 2023. |
| سنة النشر: | 2023 |
| المجموعة: | LCC:Biotechnology LCC:Genetics |
| مصطلحات موضوعية: | Long read sequencing, SNP haplotype, PGT-M, ADPKD, De novo mutation, Biotechnology, TP248.13-248.65, Genetics, QH426-470 |
| الوصف: | Abstract The autosomal dominant form of polycystic kidney disease (ADPKD) is the most common hereditary disease that causes late-onset renal cyst development and end-stage renal disease. Preimplantation genetic testing for monogenic disease (PGT-M) has emerged as an effective strategy to prevent pathogenic mutation transmission rely on SNP linkage analysis between pedigree members. Yet, it remains challenging to establish reliable PGT-M methods for ADPKD cases or other monogenic diseases with de novo mutations or without a family history. Here we reported the application of long-read sequencing for direct haplotyping in a female patient with de novo PKD1 c.11,526 G > C mutation and successfully established the high-risk haplotype. Together with targeted short-read sequencing of SNPs for the couple and embryos, the carrier status for embryos was identified. A healthy baby was born without the PKD1 pathogenic mutation. Our PGT-M strategy based on long-read sequencing for direct haplotyping combined with targeted SNP haplotype can be widely applied to other monogenic disease carriers with de novo mutation. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1471-2164 |
| Relation: | https://doaj.org/toc/1471-2164 |
| DOI: | 10.1186/s12864-023-09593-x |
| URL الوصول: | https://doaj.org/article/1815035dc77944bdb97c87e064efe7a1 |
| رقم الانضمام: | edsdoj.1815035dc77944bdb97c87e064efe7a1 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 14712164 |
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| DOI: | 10.1186/s12864-023-09593-x |