Affected-embryo-based SNP haplotyping with NGS for the preimplantation genetic testing of Marfan syndrome.

DNA Copy Number Variations Female Fibrillin-1 / genetics Genetic Testing High-Throughput Nucleotide Sequencing Humans Male Marfan Syndrome / diagnosis Polymorphism, Single Nucleotide Pregnancy Preimplantation Diagnosis
Marfan syndrome haplotyping next-generation sequencing preimplantation genetic testing single nucleotide polymorphism

Journal

Systems biology in reproductive medicine
ISSN: 1939-6376
Titre abrégé: Syst Biol Reprod Med
Pays: England
ID NLM: 101464963

Informations de publication

Date de publication:
Aug 2021
Historique:
pubmed: 1 6 2021
medline: 21 12 2021
entrez: 31 5 2021
Statut: ppublish

Résumé

Marfan syndrome (MFS), an autosomal dominant heritable disease of the connective tissue, is characterized by broad clinical manifestations in the musculoskeletal, cardiovascular, pulmonary, and ocular systems. In this study, a male patient with MFS caused by a heterozygous mutation NM_000138.5(

Identifiants

DOI: 10.1080/19396368.2021.1926574 PMID: 34053377
pubmed: 34053377
doi: 10.1080/19396368.2021.1926574
doi:

Substances chimiques

FBN1 protein, human 0
Fibrillin-1 0

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

298-306

Auteurs

Yu Deng (Y)

Center of Reproductive Medicine, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.

Zhanhui Ou (Z)

Center of Reproductive Medicine, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.

Ru Li (R)

Center of Prenatal Diagnosis, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.

Zhiheng Chen (Z)

Center of Reproductive Medicine, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.

Peiling Liang (P)

Center of Reproductive Medicine, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.

Ling Sun (L)

Center of Reproductive Medicine, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.

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Classifications MeSH

questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Polymorphisme génétique › Variation structurale du génome › Variations de nombre de copies de segment d'ADN › Affected-embryo-based SNP haplotyping with NGS...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Scléroprotéines › Protéines de la matrice extracellulaire › Fibrillines › Fibrilline-1 › Affected-embryo-based SNP haplotyping with NGS...
questionsmedicales.fr › Établissements, main d'oeuvre et services de soins de santé › Services de santé › Services de médecine préventive › Services de diagnostic › Dépistage génétique › Affected-embryo-based SNP haplotyping with NGS...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Séquençage nucléotidique à haut débit › Affected-embryo-based SNP haplotyping with NGS...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Affected-embryo-based SNP haplotyping with NGS...
questionsmedicales.fr › Maladies de la peau et du tissu conjonctif › Maladies du tissu conjonctif › Syndrome de Marfan › Affected-embryo-based SNP haplotyping with NGS...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Polymorphisme génétique › Polymorphisme de nucléotide simple › Affected-embryo-based SNP haplotyping with NGS...
questionsmedicales.fr › Phénomènes physiologiques des appareils urinaire et reproducteur › Phénomènes physiologiques de la reproduction › Reproduction › Grossesse › Affected-embryo-based SNP haplotyping with NGS...
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Techniques de diagnostic gynécologique et obstétrique › Diagnostic préimplantatoire › Affected-embryo-based SNP haplotyping with NGS...