The clinical application of single-sperm-based SNP haplotyping for PGD of osteogenesis imperfecta

Systems Biology in Reproductive Medicine
Linjun ChenHaixiang Sun

Abstract

Osteogenesis imperfecta (OI) is a genetically heterogeneous disorder, presenting either autosomal dominant, autosomal recessive or X-linked inheritance patterns. The majority of OI cases are autosomal dominant and are caused by heterozygous mutations in either the COL1A1 or COL1A2 gene. In these dominant disorders, allele dropout (ADO) can lead to misdiagnosis in preimplantation genetic diagnosis (PGD). Polymorphic markers linked to the mutated genes have been used to establish haplotypes for identifying ADO and ensuring the accuracy of PGD. However, the haplotype of male patients cannot be determined without data from affected relatives. Here, we developed a method for single-sperm-based single-nucleotide polymorphism (SNP) haplotyping via next-generation sequencing (NGS) for the PGD of OI. After NGS, 10 informative polymorphic SNP markers located upstream and downstream of the COL1A1 gene and its pathogenic mutation site were linked to individual alleles in a single sperm from an affected male. After haplotyping, a normal blastocyst was transferred to the uterus for a subsequent frozen embryo transfer cycle. The accuracy of PGD was confirmed by amniocentesis at 19 weeks of gestation. A healthy infant weighing 4,250 g was born...Continue Reading

References

Apr 1, 1979·Journal of Medical Genetics·D O SillenceD M Danks
Jan 22, 2009·Human Reproduction·L WiltonJ C Harper
Jun 15, 2011·Nature Reviews. Endocrinology·Antonella ForlinoJoan C Marini
Feb 22, 2012·Human Reproduction Update·J C HarperG Harton
Jan 11, 2013·Fetal and Pediatric Pathology·Adrienne MoulMaria M Rodriguez
Dec 18, 2013·Stem Cells Translational Medicine·Cecilia GötherströmJerry K Y Chan
Jan 28, 2014·The Journal of Clinical Investigation·Eric S OrwollBrendan Lee
Apr 10, 2014·American Journal of Medical Genetics. Part a·F S Van Dijk, D O Sillence
Jul 22, 2014·Jornal de pediatria·Eugênia R ValadaresBernhard Zabel
Mar 19, 2016·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Nick Bishop
Mar 25, 2017·Systems Biology in Reproductive Medicine·Linjun ChenHaixiang Sun

❮ Previous
Next ❯

Citations

Jun 13, 2019·Journal of Assisted Reproduction and Genetics·Luoxing XiongXiaoliang Sunney Xie
May 29, 2020·Orphanet Journal of Rare Diseases·Lidiia ZhytnikKatre Maasalu

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

© 2022 Meta ULC. All rights reserved