No abstract available.
Leukemia, Promyelocytic, Acute ; Translocation, Genetic

No available abstract.
Leukemia, Myeloid, Acute* ; Molecular Biology* ; Translocation, Genetic*

Large-scale genetic manipulation of the genome refers to the genetic modification of large fragments of DNA using knockout, integration and translocation. Compared to small-scale gene editing, large-scale genetic manipulation of the genome allows for the simultaneous modification of more genetic information, which is important for understanding the complex mechanisms such as multigene interactions. At the same time, large-scale genetic manipulation of the genome allows for larger-scale design and reconstruction of the genome, and even the creation of entirely new genomes, with great potential in reconstructing complex functions. Yeast is an important eukaryotic model organism that is widely used because of its safety and easiness of manipulation. This paper systematically summarizes the toolkit for large-scale genetic manipulation of the yeast genome, including recombinase-mediated large-scale manipulation, nuclease-mediated large-scale manipulation, de novo synthesis of large DNA fragments and other large-scale manipulation tools, and introduces their basic working principles and typical application cases. Finally, the challenges and developments in large-scale genetic manipulation are presented.
DNA ; Gene Editing ; Genetic Engineering ; Saccharomyces cerevisiae/genetics* ; Translocation, Genetic

No abstract available.
Carcinoma, Renal Cell* ; Humans ; Polycystic Kidney, Autosomal Dominant* ; Translocation, Genetic

Humans ; Multiple Myeloma/genetics* ; Karyotyping ; Translocation, Genetic/genetics*

Chromosomes, Human ; Humans ; Leukemia, Myeloid, Acute/genetics* ; Translocation, Genetic

The t(8;21)(q22;q22) translocation is the most common chromosomal abnormalities in AML, and the chromosomal translocation forms AML1-ETO. The t(8;21) AML is a heterogeneity disease. It is unclear for how to treat the relapsed or refractory AML. Recently, the clinical trials and pathogenesis have made great progress. This article summarizes the current clinical trials and recruiting t(8;21) AML clinical trials and researches that related to treatment are as followed: epigenetics, JAK/STAT signaling, steroid, Chinese traditional medicine, and interferon. With the progress of pathogenesis researches, more and more treatments will translate into clinical trials, which can provide more optional choice for relapsed or refractory t(8;21) AML. In this article the AML1-ETO structure and t(8;21) AML pathogenesis, the clinical researches of t(8;21) AML treatment and basic researches of t(8;21) AML treatment are summarized.
Chromosomes, Human, Pair 22 ; Epigenesis, Genetic ; Humans ; Leukemia, Myeloid, Acute ; Translocation, Genetic

Colorectal cancers results from the progressive accumulation of genetic and epigenetic alterations that lead to cellular transformation and tumor progression. Genomic instability, including chromosomal translocations and microsatellite instability, plays a role in acquisition of enough mutations for malignant transformation. In addition, epigenetic silencing is an important mechanism in the evolution of a subgroup of colorectal cancers. These genetic and epigenetic changes causes activation of oncogene pathway (APC, KRAS) and inactivation of tumor-suppressor pathway (p53, TGF-beta). Recent advance in colorectal carcinogenensis leads to development of molecular markers for early detection and predictive and prognostic markers.
Colorectal Neoplasms ; Epigenomics ; Genetic Markers ; Genomic Instability ; Microsatellite Instability ; Oncogenes ; Translocation, Genetic

HOX gene encodes a group of homeodomain transcription factors which are highly conserved. The caudal-type homeobox (CDX) , ten-eleven translocation (TET) genes and polycomb group (PcG) , trithorax group (TrxG) proteins act as upstream regulators of HOX genes that manipulate the targeted gene expression through genetic and epigenetic mechanisms. The abnormal expression of HOX genes and their fusions contribute to myelodysplastic syndromes (MDS) pathogenesis. Aberrant DNA methylation and NUP98-HOX translocation serve as molecular mediators of dysfunction in MDS which can be used for the evaluation of biology and therapy. This article provides an overview of recent advances of studies on HOX gene and its abnormal molecular mechanisms, as well as potential correlation with MDS.
DNA-Binding Proteins ; Drosophila Proteins ; Epigenesis, Genetic ; Genes, Homeobox ; Humans ; Myelodysplastic Syndromes ; Translocation, Genetic

OBJECTIVE: To assess the application value of mapping allele with resolved carrier status (MaReCs) technique for preimplantation genetic testing (PGT). METHODS: The characteristics of MaReCs for PGT and outcome of patients were retrospectively analyzed. RESULTS: Compared with those who could not use the technique, carriers who have used the MaReCs technique were younger, had significantly higher level of anti-Mullerian hormone, more antral follicles, occytes, mature occytes, biopsied embryos and euploid embryos, and lower risks for de novo chromosomal abnormality (P<0.05). It was necessary for couples with fewer oocytes, mature oocytes and balstocyst to preserve discarded embryos to facilitate the test. Carriers who have used the MaReCs technique had higher clinical pregnancy rate and abortion rate compared with those undergoing routine PGT, albeit no significant difference was found between the two groups (P> 0.05). Carriers undergoing MaReCs test could preferentially select embryos with normal chromosome structures for the transfer. CONCLUSION Application of MaReCs has a prerequisite for having a minimum number of occytes and biopsied embryos and using discarded embryos sometimes. MaReCs is efficient for the detection of carrier status of embryos and attaining higher rate of pregnancy and live birth, which can significantly improve the outcome for couples carrying chromosomal translocations.
Alleles ; Aneuploidy ; Blastocyst ; Female ; Fertilization in Vitro ; Genetic Testing ; Humans ; Pregnancy ; Preimplantation Diagnosis ; Retrospective Studies ; Translocation, Genetic