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

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

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

OBJECTIVE: To assess the value of preimplantation genetic test (PGT) based on next generation sequencing (NGS) for achieving pregnancy for 71 couples with one partner carrying a reciprocal or Robertsonian translocation. METHODS: Following blastocyst biopsy, whole genome of single cell was amplified, and PGT was performed by NGS. The subjects included 60 couples with one partner carrying a reciprocal translocation and 11 with one partner carrying a Robertsonian translocation. The results of PGT, implantation and prenatal diagnosis for all of the couples were analyzed. RESULTS: In total 301 embryos were obtained for the 71 couples through 92 ovulation cycles, 287 (95.3%) of which were successfully diagnosed by NGS. Eighty-five euploidy embryos were identified for the reciprocal translocation carrier group. In 18 cycles, no euploid embryo was obtained. Cancellation rate for the cycles was 19.5%. For reciprocal translocation carrier group and Robertsonian translocation carrier group, the rates for implantation, early abortion, and clinical pregnancy were 89.3% (42/47), 25.5% (12/47), 63.8% (30/47), and 88.8% (8/9), 22.2% (2/9), and 66.6% (6/9), respectively. The result of prenatal diagnosis was consistent with the that of PGT. CONCLUSION PGT based on NGS can effectively identify euploid embryos and reduce recurrent abortions and termination of pregnancies, achieving a satisfactory rate for clinical pregnancy.
Female ; Fertilization in Vitro ; Genetic Testing ; High-Throughput Nucleotide Sequencing ; Humans ; Pregnancy ; Preimplantation Diagnosis ; methods ; Translocation, Genetic