ArticleJournal of assisted reproduction and genetics2018
Genotyping single-sperm cells by universal MARSALA enables the acquisition of linkage information for combined pre-implantation genetic diagnosis and genome screening.
Article in Journal of assisted reproduction and genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 19 citations in OpenAlex.
- Preimplantation Genetic Testing for Cornelia de Lange Syndrome with Low-Level Maternal Gonadal Mosaicism for a Sub-Megabase Deletion in China.The application of clinical genetics · 2026Article
- An Integrated Preimplantation Genetic Testing Approach with MALBAC-Based Whole-Genome Sequencing.Methods in molecular biology (Clifton, N.J.) · 2026Article
- Clinical application of next generation sequencing-based haplotype linkage analysis in the preimplantation genetic testing for germline mosaicisms.Orphanet journal of rare diseases · 2023Article
- Establishment of linkage phase, using Oxford Nanopore Technologies, for preimplantation genetic testing of Coffin-Lowry syndrome with aFrontiers in genetics · 2023Article
- Using affected embryos to establish linkage phase in preimplantation genetic testing for thalassemia.Reproductive biology and endocrinology : RB&E · 2022Article
- Whole Genome Amplification in Preimplantation Genetic Testing in the Era of Massively Parallel Sequencing.International journal of molecular sciences · 2022Review
- Haplotyping by linked-read sequencing (HLRS) of the genetic disease carriers for preimplantation genetic testing without a proband or relatives.BMC medical genomics · 2020Article
- Preimplantation genetic testing for a family with usher syndrome through targeted sequencing and haplotype analysis.BMC medical genomics · 2019Article
- Bayesian model for accurate MARSALA (mutated allele revealed by sequencing with aneuploidy and linkage analyses).Journal of assisted reproduction and genetics · 2019Article
- The clinical application of preimplantation genetic diagnosis for X-linked retinitis pigmentosa.Journal of assisted reproduction and genetics · 2019Article
Corrections and comments
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Authors and funding
16 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThis paper aims to investigate the feasibility of performing pre-implantation genetic diagnosis (PGD) and pre-implantation genetic screening (PGS) simultaneously by a universal strategy without the requirement of genotyping relevant affected family members or lengthy preliminary work on linkage analysis.
methodsBy utilizing a universal Mutated Allele Revealed by Sequencing with Aneuploidy and Linkage Analyses (MARSALA) strategy based on low depth whole genome sequencing (~3x), not involving specific primers' design nor the enrichment of SNP markers for haplotype construction. Single-sperm cells and trephectoderm cells from in vitro fertilized embryos from a couple carrying HBB mutations were genotyped. Haplotypes of paternal alleles were constructed and investigated in embryos, and the chromosome copy number profiles were simultaneously analyzed.
resultsThe universal MARSALA strategy allows the selection of a euploid embryo free of disease mutations for in uterus transfer and successful pregnancy. A follow-up amniocentesis was performed at 17 weeks of gestation to confirm the PGD/PGS results.
conclusionWe present the first successful PGD procedure based on genotyping multiple single-sperm cells to obtain SNP linkage information. Our improved PGD/PGS procedure does not require genotyping the proband or relevant family members and therefore can be applicable to a wider population of patients when conducting PGD for monogenic disorders.
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