Abstract:
:Background: Congenital disorder of glycosylation (CDG) is a severe morphogenic and metabolic disorder that affects all of the systems of organs and is caused by a mutation of the gene PMM2, having a mortality rate of 20% during the first months of life. Results: Here we report the outcome of an in vitro fertilisation (IVF) cycle associated with preimplantation genetic testing for monogenic diseases (PGT-M) in a Romanian carrier couple for CDG type Ia with distinct mutations of the PMM2 gene. The embryonic biopsy was performed on day five of the blastocyst stage for six embryos. The amplification of the whole genome had been realized by using the PicoPLEX WGA kit. Using the Array Comparative Genomic Hybridisation technique, we detected both euploid and aneuploid embryos. The identification of the PMM2 mutation on exon 5 and exon 6 was performed for the euploid embryos through Sanger Sequencing with specific primers on ABI 3500. Of the six embryos tested, only three were euploid. One had compound heterozygosity and the remaining two were simple heterozygotes. Conclusion: PGT-M should be strongly considered for optimising embryo selection in partners with single-gene mutations in order to prevent transmission to the offspring.
journal_name
Genes (Basel)journal_title
Genesauthors
Doroftei B,Nemtanu L,Ilie OD,Simionescu G,Ivanov I,Anton E,Puiu M,Maftei Rdoi
10.3390/genes11060697subject
Has Abstractpub_date
2020-06-25 00:00:00issue
6issn
2073-4425pii
genes11060697journal_volume
11pub_type
相关文献
Genes文献大全abstract::Histone acts as the core for nucleosomes and is a key protein component of chromatin. Among different histone variants, histone H3 (HH3) variants have been reported to play vital roles in plant development. However, biological information and evolutionary relationships of HH3 genes in cotton remain to be elucidated. T...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes10050355
更新日期:2019-05-09 00:00:00
abstract::The complete mutational spectrum of dystrophinopathies and limb-girdle muscular dystrophy (LGMD) remains unknown in Mexican population. Seventy-two unrelated Mexican male patients (73% of pediatric age) with clinical suspicion of muscular dystrophy and no evidence of DMD gene deletion on multiplex polymerase chain rea...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes10110856
更新日期:2019-10-29 00:00:00
abstract::Shiga toxin-producing Escherichia coli (STEC) are foodborne pathogens associated with outbreaks and hemolytic-uremic syndrome. Cattle and meat foods are the main reservoir and infection source, respectively. Pathogenicity islands (PAIs) play an important role in STEC pathogenicity, and non-locus of the enterocyte effa...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes9020081
更新日期:2018-02-10 00:00:00
abstract::Recently, microfluidic technologies have attracted an enormous amount of interest as potential new tools for a large range of applications including materials synthesis, chemical and biological detection, drug delivery and screening, point-of-care diagnostics, and in-the-field analysis. Their ability to handle extreme...
journal_title:Genes
pub_type: 杂志文章,评审
doi:10.3390/genes9060283
更新日期:2018-06-05 00:00:00
abstract::Sarcomas are highly aggressive cancers that have a high propensity for metastasis, fail to respond to conventional therapies, and carry a poor 5-year survival rate. This is particularly true for patients with neurofibromatosis type 1 (NF1), in which 8%-13% of affected individuals will develop a malignant peripheral ne...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes11050499
更新日期:2020-05-01 00:00:00
abstract::Warmblood fragile foal syndrome (WFFS) is an autosomal recessive disorder caused by a single nucleotide variant in the procollagen-lysine-2-oxoglutarate-5-dioxygenase 1 gene (PLOD1:c.2032G>A, p.Gly678Arg). Homozygosity for the PLOD1 variant causes an Ehler-Danlos-like syndrome, which has to date only been reported in ...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes11121518
更新日期:2020-12-18 00:00:00
abstract::coalescence methods have emerged as a popular alternative for inferring species trees with large genomic datasets, because these methods explicitly account for incomplete lineage sorting. However, statistical consistency of summary coalescence methods is not guaranteed unless several model assumptions are true, includ...
journal_title:Genes
pub_type: 杂志文章,评审
doi:10.3390/genes9030123
更新日期:2018-02-26 00:00:00
abstract::A large number of studies have focused on identifying molecular biomarkers, including microRNAs (miRNAs) to aid in the diagnosis and prognosis of the most common subtypes of non-Hodgkin lymphoma (NHL), Diffuse Large B-cell Lymphoma and Follicular Lymphoma. NHL is difficult to diagnose and treat with many cases becomin...
journal_title:Genes
pub_type: 杂志文章,评审
doi:10.3390/genes7120130
更新日期:2016-12-17 00:00:00
abstract::Epigenetic modifications are a mechanism conveying environmental information to subsequent generations via parental germ lines. Research on epigenetic responses to environmental changes in wild mammals has been widely neglected, as well as studies that compare responses to changes in different environmental factors. H...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes10010004
更新日期:2018-12-21 00:00:00
abstract::Cancers can be categorized into two groups: those whose frequency increases with age, and those resulting from errors during mammalian development. The first group is linked to DNA replication through the accumulation of genetic mutations that occur during proliferation of developmentally acquired stem cells that give...
journal_title:Genes
pub_type: 杂志文章,评审
doi:10.3390/genes8020045
更新日期:2017-01-25 00:00:00
abstract::Pyrethroid resistance in major malaria vectors such as Anopheles funestus threatens malaria control efforts in Africa. Cytochrome P450-mediated metabolic resistance is best understood for CYP6P9 genes in southern Africa in An. funestus. However, we do not know if this resistance mechanism is spreading across Africa an...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes11111314
更新日期:2020-11-05 00:00:00
abstract::Small RNAs play an important role in regulating plant responses to abiotic stress. Depending on the method of salt application, whether sudden or gradual, plants may experience either salt shock or salt stress, respectively. In this study, small RNA expression in response to salt shock and long-term salt stress in par...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes8120369
更新日期:2017-12-05 00:00:00
abstract::Despite a considerable body of published research on hepatitis B in Bangladesh, researchers continue to lament the lack of reliable information about hepatitis B virus (HBV) infection epidemiology. The present review aims to provide a comprehensive survey of the literature with particular focus on a number of epidemio...
journal_title:Genes
pub_type: 杂志文章,评审
doi:10.3390/genes9110541
更新日期:2018-11-08 00:00:00
abstract::In genome analysis, k-mer-based comparison methods have become standard tools. However, even though they are able to deliver reliable results, other algorithms seem to work better in some cases. To improve k-mer-based DNA sequence analysis and comparison, we successfully checked whether adding positional resolution is...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes8040122
更新日期:2017-04-19 00:00:00
abstract::Death investigations often include an effort to establish the postmortem interval (PMI) in cases in which the time of death is uncertain. The postmortem interval can lead to the identification of the deceased and the validation of witness statements and suspect alibis. Recent research has demonstrated that microbes pr...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes9020104
更新日期:2018-02-16 00:00:00
abstract::In forensics, mitochondrial DNA (mtDNA) analysis is foremost applied to rootless hairs often lacking detectable nuclear DNA. Sanger sequencing is the routine mtDNA method in most forensic laboratories, even though interpretation of mixed samples and heteroplasmic sites can be challenging. Individuals may hold cells wi...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes11111355
更新日期:2020-11-16 00:00:00
abstract::Chlorella is a popular microalga with robust physiological and biochemical characteristics, which can be cultured under various conditions. The exploration of the small RNA content of Chlorella could improve strategies for the enhancement of metabolite production from this microalga. In this study, stress was introduc...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes11101131
更新日期:2020-09-25 00:00:00
abstract::Satellite DNAs are tandemly repeated sequences preferentially assembled into large arrays within constitutive heterochromatin and their transcription is often activated by stress conditions, particularly by heat stress. Bioinformatic analyses of sequenced genomes however reveal single repeats or short arrays of satell...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes11060663
更新日期:2020-06-18 00:00:00
abstract::Alternative splicing is a well-studied gene regulatory mechanism that produces biological diversity by allowing the production of multiple protein isoforms from a single gene. An involvement of alternative splicing in the key biological signalling Hippo pathway is emerging and offers new therapeutic avenues. This revi...
journal_title:Genes
pub_type: 杂志文章,评审
doi:10.3390/genes9030161
更新日期:2018-03-13 00:00:00
abstract::Helicobacter pylori (H. pylori) is one of the main causes of gastric gancer. TNF-related apoptosis-inducing ligand (TRAIL) is a protein able to promote apoptosis in cancer cells, however not in gastric cancer, which presents resistance to apoptosis via TRAIL. It is believed that MicroRNA-106b-5p might be involved in t...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes11040393
更新日期:2020-04-05 00:00:00
abstract::Cancer genome sequence data provide an invaluable resource for inferring the key mechanisms by which mutations arise in cancer cells, favoring their survival, proliferation and invasiveness. Here we examine recent advances in understanding the molecular mechanisms responsible for the predominant type of genetic altera...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes5010108
更新日期:2014-03-05 00:00:00
abstract::The Mexican population has one of the highest prevalences of metabolic syndrome (MetS) worldwide. The aim of this study was to investigate the association of single-nucleotide polymorphisms (SNPs) with MetS and its components. First, we performed a pilot Genome-wide association study (GWAS) scan on a sub-sample derive...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes11101192
更新日期:2020-10-14 00:00:00
abstract::The P-type plasma membrane (PM) H+-ATPase plays a major role during the growth and development of a plant. It is also involved in plant resistance to a variety of biotic and abiotic factors, including salt stress. The PM H+-ATPase gene family has been well characterized in Arabidopsis and other crop plants such as ric...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes11040361
更新日期:2020-03-27 00:00:00
abstract::The accurate repair of DNA is critical for genome stability and cancer prevention. DNA double-strand breaks are one of the most toxic lesions; however, they can be repaired using homologous recombination. Homologous recombination is a high-fidelity DNA repair pathway that uses a homologous template for repair. One cen...
journal_title:Genes
pub_type: 杂志文章,评审
doi:10.3390/genes9120629
更新日期:2018-12-13 00:00:00
abstract::Our current knowledge of B chromosome biology has been augmented by an increase in the number and diversity of species observed to carry B chromosomes as well as the use of next-generation sequencing for B chromosome genomic analysis. Within the genus Drosophila, B chromosomes have been observed in a handful of specie...
journal_title:Genes
pub_type: 杂志文章,评审
doi:10.3390/genes9100470
更新日期:2018-09-27 00:00:00
abstract::Ferns are a representative clade in plant evolution although underestimated in the genomic era. Ceratopteris richardii is an emergent model for developmental processes in ferns, yet a complete scheme of the different growth stages is necessary. Here, we present a developmental analysis, at the tissue and cellular leve...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes11121455
更新日期:2020-12-04 00:00:00
abstract::Duchenne muscular dystrophy (DMD) is a progressive hereditary muscular disease with X-linked recessive inheritance, that leads patients to premature death. The loss of dystrophin determines membrane instability, causing cell damage and inflammatory response. Macrophage migration inhibitory factor (MIF) is a cytokine t...
journal_title:Genes
pub_type: 杂志文章,meta分析
doi:10.3390/genes10110939
更新日期:2019-11-18 00:00:00
abstract::B chromosomes (Bs) are enigmatic additional elements in the genomes of thousands of species of plants, animals, and fungi. How do these non-essential, harmful, and parasitic chromosomes maintain their presence in their hosts, making demands on all the essential functions of their host genomes? The answer seems to be t...
journal_title:Genes
pub_type: 杂志文章,评审
doi:10.3390/genes9080388
更新日期:2018-07-31 00:00:00
abstract::RPE65 isomerase, expressed in the retinal pigmented epithelium (RPE), is an enzymatic component of the retinoid cycle, converting all-trans retinyl ester into 11-cis retinol, and it is essential for vision, because it replenishes the photon capturing 11-cis retinal. To date, almost 200 loss-of-function mutations have ...
journal_title:Genes
pub_type: 杂志文章,评审
doi:10.3390/genes11121420
更新日期:2020-11-27 00:00:00
abstract::Adiponectin plays an important role in energy homeostasis and metabolism in mammalian adipose tissue. In this study, the relationship between adiponectin gene (ADIPOQ) haplotypes and variation in growth and carcass traits in New Zealand (NZ) Romney lambs was investigated using General Linear Models (GLMs). Eight haplo...
journal_title:Genes
pub_type: 杂志文章
doi:10.3390/genes8060160
更新日期:2017-06-12 00:00:00