Journal of the Association of Genetic Technologists最新文献_第6页

A Case Study of Ring Chromosome 13 in a Pediatric Patient. 一例小儿患者13号环染色体的病例研究。

Journal of the Association of Genetic Technologists Pub Date : 2021-01-01

Anne Okabe, David Palencia, David Trejo-Solis, Alberto Duarte-Martinez, Angélica López-Bernal, Lorena Villalba Salgado, Félix Labán, Carlos A Tirado

引用次数: 0

ASXL1 Gene in AML. AML中的ASXL1基因。

Journal of the Association of Genetic Technologists Pub Date : 2021-01-01

Rodrigo Hurtado, Fabian Guirales, Carlos A Tirado

{"title":"ASXL1 Gene in AML.","authors":"Rodrigo Hurtado, Fabian Guirales, Carlos A Tirado","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: The ASXL1 (additional sex combs like 1) gene on 20q11 codifies the ASXL1 protein that belongs to protein complexes that play a role in gene expression and epigenetic regulation. ASXL1 is located near the DNMT3B gene and is part of a family of three genes (ASXL1, ASXL2, ASXL3) that are homologues to the Drosophila Asx gene. The ASXL1 gene contains a total of 14 exons and is expressed in the vast majority of hematopoietic cell types. While the specific job of ASXL1 in normal hematopoiesis and the involvement of mutated ASXL1 to the progression of hematopoietic malignancies have not yet been fully set forth, current data studies propose that ASXL1 is characterized as a tumor suppressor gene. Mutations in the ASXL1 gene are observed in myeloid malignancies usually associated with aggressiveness and poor clinical results and were reported first in the year 2009 in myelodysplastic syndromes (MDS). Nevertheless, ASXL1 gene mutations are also found in acute myeloid leukemia (AML) with normal karyotype as well as AML with myelodysplasia-related changes and AML with non-characteristic cytogenetic findings. Herein we examine the involvement of the ASXL1 gene in AML to address the importance of these ASXL1 mutations in the prognostic evaluation of AML.","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"47 2","pages":"60-68"},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39243710","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Applications and Advancements of CRISPR/Cas9 Technology: An Update. CRISPR/Cas9技术的应用与进展

Journal of the Association of Genetic Technologists Pub Date : 2021-01-01

Anna Okabe, Peter Simonse, Andrew Reyes, Leena Nabipur, Melody Zaki, Carlos Tirado

{"title":"Applications and Advancements of CRISPR/Cas9 Technology: An Update.","authors":"Anna Okabe, Peter Simonse, Andrew Reyes, Leena Nabipur, Melody Zaki, Carlos Tirado","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: The clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein 9 (Cas9) system is an RNA-guided DNA targeting platform widely known for its application in genome editing. Originally derived from the bacterial and archaebacterial defense mechanism against phage infection, it has since been studied and utilized for its potential as a genetic engineering tool and as a therapeutic agent. The Cas9 protein in its standard form induces double-stranded breaks (DSBs) in the target dsDNA sequence; however, modifications of the Cas9 protein have allowed for single-stranded breaks (SSBs) and even epigenetic modifications of gene expression. In comparison with previous methods including RNA interference, Zinc Finger Nucleases, and TAL Effector Nucleases, CRISPR is cheaper, more easily customized, and has a higher fidelity to its target site with fewer off-target effects. Consequently, CRISPR has become a central gene editing technique in a broad variety of research settings, with great potential for applications in human health. In this review, we offer an overview of CRISPR's mechanism of action and recent advancements in the application of CRISPR, as well as discuss literature pertinent to CRISPR applications to human health including many exciting prospective treatments for serious pathologies.","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"47 3","pages":"110-120"},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39391698","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Acute Myeloid Leukemia with Myelodysplasia-Related Changes Presenting as Vitamin B12 Deficiency: A Cautionary Tale. 急性髓性白血病伴骨髓增生异常相关改变表现为维生素B12缺乏:一个警世故事。

Journal of the Association of Genetic Technologists Pub Date : 2021-01-01

Catherine Gereg, Joanna L Conant, Sakshi Jasra, Katherine A Devitt, Juli-Anne Gardner

引用次数: 0

A t(9;11)(p22;q23) Within the Context of a Complex Karyotype is Associated with a Poor Prognosis in a 19-Year-Old Patient with AML. 复杂核型背景下的t(9;11)(p22;q23)与19岁AML患者的不良预后相关。

Journal of the Association of Genetic Technologists Pub Date : 2021-01-01

Carlos A Tirado, Leena Nabipur, Joy King, Anna Okabe, Fabian Guirales, M Teresa Guardiola, Krystal Eastwood, William Koss

{"title":"A t(9;11)(p22;q23) Within the Context of a Complex Karyotype is Associated with a Poor Prognosis in a 19-Year-Old Patient with AML.","authors":"Carlos A Tirado, Leena Nabipur, Joy King, Anna Okabe, Fabian Guirales, M Teresa Guardiola, Krystal Eastwood, William Koss","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: A 19-year-old male with a history of irritable bowel syndrome presented with progressive fatigue, periorbital petechiae, and abdominal pain for 2-3 weeks. The peripheral blood smear showed leukocytosis and circulating blasts. Elevated PT, PTT, and FDP with normal fibrinogen were found in the DIC panel workup. Abdominal CT suggested splenomegaly. A bone marrow biopsy revealed sheets of monotonous agranular monoblasts nearly completely replaced the hematopoietic elements. Chromosome analysis depicted an abnormal male karyotype with a t(9;11)(p22;q23) in all metaphase cells examined. Four cells showed, in addition, two 8q isochromosomes. FISH analysis was utilized with the MYC (8q24.21) probe from Abbott and the KMT2A (11q23), those of which showed gain on MYC and evidence of KMT2A. These findings correlate with the concurrent conventional cytogenetic findings and were described as nuc ish(MYCx4~9)[182/200],(KMT2Ax2)(5'KMT2A sep 3'KMT2Ax1)[181/200]. Complex karyotypes are associated with poor prognosis. Although only a few pediatric cases exist in the literature, the presence of additional abnormalities put this finding as a poor prognostic marker in AML. Correlation with other clinical data was indicated.","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"47 2","pages":"78-83"},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39243709","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Optical Genome Mapping: A Revolutionary Tool for "Next Generation Cytogenomics Analysis" with a Broad Range of Diagnostic Applications in Human Diseases. 光学基因组图谱:“下一代细胞基因组学分析”的革命性工具，在人类疾病诊断中具有广泛的应用。

Journal of the Association of Genetic Technologists Pub Date : 2021-01-01

Jaime Garcia-Heras

{"title":"Optical Genome Mapping: A Revolutionary Tool for \"Next Generation Cytogenomics Analysis\" with a Broad Range of Diagnostic Applications in Human Diseases.","authors":"Jaime Garcia-Heras","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: Optical Genome Mapping (OGM) has emerged as a very powerful technology to diagnose in a single step a large variety of chromosomal abnormalities with high accuracy, at an unprecedented resolution, and in a time- and cost-effective way. A few recent studies provided a proof-of-principle that OGM can replace traditional cytogenomic assays (karyotyping, FISH, and SNP-arrays) in constitutional studies and the evaluation of hematologic disorders. OGM not only identified abnormalities previously diagnosed by standard methods, it highlighted the structural complexity of some rearrangements and uncovered novel findings with potential diagnostic, prognostic and therapeutic significance. While OGM still seems to have some technical and diagnostic limitations that require fine-tuning and improvement, it has so far shown so many promising advantages that future routine use heralds a revolutionary era in next-generation cytogenomic analysis.\u0000\u0000Keywords: Optical Genome Mapping, cytogenetic diagnosis, chromosome abnormalities detection, cancer cytogenetics, constitutional chromosome aberrations, cytogenomic variation, structural variants (SVs), copy number variants (CNVs)","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"47 4","pages":"191-200"},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39716856","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Solving the Puzzle: The Diagnosis of Atypical Chronic Myeloid Leukemia, BCR-ABL1-Negative (aCML). 解决难题:诊断非典型慢性髓系白血病，bcr - abl1阴性(aCML)。

Journal of the Association of Genetic Technologists Pub Date : 2021-01-01

Karamatullah Danyal, Katherine Devitt, Juli-Anne Gardner

引用次数: 0

Monosomy 21, a Sole Abnormality in an Elderly Man with Non-CLL-Type Monoclonal B-cell Lymphocytosis. 老年男性非cll型单克隆b细胞淋巴细胞增多症患者的唯一异常:21号单体。

Journal of the Association of Genetic Technologists Pub Date : 2021-01-01

Wilson Yeh, Dariusz Mrugala, Hannah Robinson, Carlos A Tirado

{"title":"Monosomy 21, a Sole Abnormality in an Elderly Man with Non-CLL-Type Monoclonal B-cell Lymphocytosis.","authors":"Wilson Yeh, Dariusz Mrugala, Hannah Robinson, Carlos A Tirado","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: Monoclonal B-cell lymphocytosis (MBL) is a light-chain restricted proliferation of mature B cells fewer than 5000 cells/μL without additional clinical or hematologic abnormalities. Sibling studies of individuals genetically susceptible to chronic lymphocytic leukemia (CLL) first identified monoclonal B cells in otherwise healthy persons, and studies show a 3% to 14% prevalence for MBL in persons over 40 years of age. Non-CLL-type MBL accounts for less than 20% of all MBL cases, and its progression is incompletely characterized. Here we present the case of an 85-year-old man with CD5-, CD19+, CD20 bright, and lambda-restricted lymphoid cells whose immunophenotypic findings are suggestive for a precursor lesion to marginal zone lymphoma (MZL). Karyotyping showed monosomy 21 without additional cytogenetic changes in three of the 35 cells examined. Monosomy 21 as a sole abnormality in CLL has been detected in just 11 cases between 1984 and 2003. As a sole abnormality in splenic and nodal marginal zone lymphoma, only three instances of monosomy 21 have been recorded on the Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer. The significance of monosomy 21 as a marker for oncogenesis remains unclear.","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"47 4","pages":"213-217"},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39829574","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Genetic Variants in Host Protein Disulfide Isomerase 2 (PDIA2) are Associated with Susceptibility to Chlamydia Trachomatis Infection. 宿主蛋白二硫异构酶2 (PDIA2)的遗传变异与沙眼衣原体感染的易感性相关

Journal of the Association of Genetic Technologists Pub Date : 2020-01-01

Christopher Zysk, Steven Williams, Itzel Chavarria, Hailey Wilson, Adedayo Balogun, Emily Jacobs, Rachel Kaminski, Baru-Ta Foma, Jack Johnson, Wesley Lux, Kristyn McCoy, Stephen Morales, Gina Sanchez, Paul Grubb, Melanie Littlejohn, Ryan Mize, Jorge Moreno, Caryn Pirtle, Ericka C Hendrix, Katie M Bennett

{"title":"Genetic Variants in Host Protein Disulfide Isomerase 2 (PDIA2) are Associated with Susceptibility to Chlamydia Trachomatis Infection.","authors":"Christopher Zysk, Steven Williams, Itzel Chavarria, Hailey Wilson, Adedayo Balogun, Emily Jacobs, Rachel Kaminski, Baru-Ta Foma, Jack Johnson, Wesley Lux, Kristyn McCoy, Stephen Morales, Gina Sanchez, Paul Grubb, Melanie Littlejohn, Ryan Mize, Jorge Moreno, Caryn Pirtle, Ericka C Hendrix, Katie M Bennett","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: Objective: Host genetics can influence susceptibility to Chlamydia trachomatis infection. This study examined two genetic variants in human protein disulfide isomerase A2 (PDIA2), a member of a family of protein chaperones that participate in the chlamydial life cycle. Methods: A total of 278 male and female subjects, positive or negative for C. trachomatis infection, were genotyped for PDIA2 polymorphisms (rs400037 and rs419949) using real-time PCR and pyrosequencing. Results: There was a significant odds ratio of 8.21 (95% CI: 1.77-38.16) for rs400037 and 9.89 (95% CI: 1.19-82.10) for rs419949, for the AA genotypes. Conclusion: This indicates that individuals with the PDIA2 AA genotypes have significantly increased susceptibility to C. trachomatis infection as compared to the other PDIA2 genotypes (GG, GA). This correlation may be explained by an interactive role of host protein disulfide isomerases in the attachment and entry of C. trachomatis into cells.","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"46 4","pages":"244-249"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38351590","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Noonan Syndrome: Common Molecular Alterations and the Consequences. 努南综合征:常见的分子改变及其后果。

Journal of the Association of Genetic Technologists Pub Date : 2020-01-01

Casey Rankins, Heather Bradeen, Katherine Devitt, Juli-Anne Gardner

引用次数: 0