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array comparative hybridization

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https://www.readbyqxmd.com/read/28081277/comparative-genomic-hybridization-analysis-of-rice-dwarf-mutants-induced-by-gamma-irradiation
#1
J E Hwang, S-H Kim, I J Jung, S M Han, J-W Ahn, S-J Kwon, S H Kim, S-Y Kang, D S Kim, J-B Kim
Comparative genomic hybridization (CGH) is a powerful tool used to analyze changes in copy number, polymorphisms, and structural variations in the genome. Gene copy number variation (CNV) is a common form of natural diversity in the genome, which can create new genes and alter gene structure. Thus, CNVs may influence phenotypic variation and gene expression. In this study, to detect CNVs, we irradiated rice seeds with gamma rays (300 Gy) and selected two dwarf mutagenized plants, GA-III-189 and -1052, in the M3 generation...
December 23, 2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28075483/detecting-apc-gene-mutations-in-familial-adenomatous-polyposis-fap
#2
Babi Ramesh Reddy Nallamilli, Madhuri Hegde
Hereditary forms of colorectal cancer (CRC) account for up to 5% of total cases. Familial adenomatous polyposis (FAP) is an autosomal dominant condition affecting nearly 1 in 5000 people and accounts for only about 1% of all CRCs. It is characterized by the progressive development of hundreds to thousands of adenomatous colon polyps. The gene associated with FAP (APC) contains 15 coding exons. The mutation spectrum of the APC gene is broad in that 87% of causative mutations are point mutations (including other sequence variants) and around 10% to 15% are intragenic deletions and duplications...
January 11, 2017: Current Protocols in Human Genetics
https://www.readbyqxmd.com/read/28064333/neurological-expression-of-an-inherited-translocation-of-chromosomal-1-and-7
#3
Nabil A AlMajhad, Amal M AlHashem, Inesse A Bouhjar, Brahim M Tabarki
An unbalanced translocation of chromosome 1 and 7 (t[1;7]) associated with neurological phenotype and brain malformation has rarely been reported. This clinical report describes 3 siblings with brain malformations and a 13.5 Mb duplication of 1q42.3q44, and a 7.6 Mb duplication of 7q36.1q36.3 detected by array comparative genomic hybridization. This unbalanced t(1;7) was found to be inherited from a balanced translocation from the mother. All the patients presented with hypotonia, microcephaly, developmental delay, seizures, abnormal corpus callosum and abnormal cerebellum...
January 2017: Neurosciences: the Official Journal of the Pan Arab Union of Neurological Sciences
https://www.readbyqxmd.com/read/28064285/unusual-duplication-in-the-pericentromeric-region-of-chromosome-9-in-a-patient-with-phenotypic-alterations
#4
Andréa C M Malinverni, Mileny E Colovati, Ana B A Perez, Thamy P Caneloi, Hélio R Oliveira, Nadezda Kosyakova, Thomas Liehr, Ahmed B Hamid, Maria I Melaragno
Several alterations involving the pericentromeric region of chromosome 9 are considered as normal population variants. These heterochromatic variants or heteromorphisms can include 9qh+, 9cen+, 9ph+, 9ph-, inv(9)(p11q13), and other patterns which can only be defined by FISH studies. However, some heteromorphisms have been found more frequently in patients with several clinical disorders. Here, we report on a patient with intellectual disability, language and neurodevelopmental delay, as well as facial dysmorphism and an unusual chromosome 9...
January 7, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28058646/a-high-efficiency-si-nanowire-array-perovskite-hybrid-solar-cell
#5
Xin Yan, Chen Zhang, Jiamin Wang, Xia Zhang, Xiaomin Ren
A low-cost Si nanowire array/perovskite hybrid solar cell is proposed and simulated. The solar cell consists of a Si p-i-n nanowire array filled with CH3NH3PbI3, in which both the nanowires and perovskite absorb the incident light while the nanowires act as the channels for transporting photo-generated electrons and holes. The hybrid structure has a high absorption efficiency in a broad wavelength range of 300~800 nm. A large short-circuit current density of 28.8 mA/cm(2) and remarkable conversion efficiency of 13...
December 2017: Nanoscale Research Letters
https://www.readbyqxmd.com/read/28058543/genomic-profiling-of-canine-mast-cell-tumors-identifies-dna-copy-number-aberrations-associated-with-kit-mutations-and-high-histological-grade
#6
Hiroyuki Mochizuki, Rachael Thomas, Scott Moroff, Matthew Breen
Mast cell tumor (MCT) is the most common skin malignancy of domestic dogs and presents with a widely variable clinical behavior. Although activating KIT mutations are present in approximately 20% of canine MCTs, molecular etiology is largely unknown for the majority of this cancer. Characterization of genomic alterations in canine MCTs may identify genomic regions and/or genes responsible for their development and progression, facilitating the discovery of new therapeutic targets and improved clinical management of this heterogeneous cancer...
January 5, 2017: Chromosome Research
https://www.readbyqxmd.com/read/28056099/integrated-analysis-of-genome-wide-copy-number-alterations-and-gene-expression-profiling-of-lung-cancer-in-xuanwei-china
#7
Yanliang Zhang, Qiuyue Xue, Guoqing Pan, Qing H Meng, Xiaoyu Tuo, Xuemei Cai, Zhenghui Chen, Ya Li, Tao Huang, Xincen Duan, Yong Duan
OBJECTIVES: Lung cancer in Xuanwei (LCXW), China, is known throughout the world for its distinctive characteristics, but little is known about its pathogenesis. The purpose of this study was to screen potential novel "driver genes" in LCXW. METHODS: Genome-wide DNA copy number alterations (CNAs) were detected by array-based comparative genomic hybridization and differentially expressed genes (DEGs) by gene expression microarrays in 8 paired LCXW and non-cancerous lung tissues...
2017: PloS One
https://www.readbyqxmd.com/read/28053646/comparison-of-three-genomic-dna-extraction-methods-to-obtain-high-dna-quality-from-maize
#8
Amani Abdel-Latif, Gamal Osman
BACKGROUND: The world's top three cereals, based on their monetary value, are rice, wheat, and corn. In cereal crops, DNA extraction is difficult owing to rigid non-cellulose components in the cell wall of leaves and high starch and protein content in grains. The advanced techniques in molecular biology require pure and quick extraction of DNA. The majority of existing DNA extraction methods rely on long incubation and multiple precipitations or commercially available kits to produce contaminant-free high molecular weight DNA...
2017: Plant Methods
https://www.readbyqxmd.com/read/28052595/lysine-based-%C3%AE-peptide-%C3%AE-peptoid-peptidomimetics-influence-of-hydrophobicity-fluorination-and-distribution-of-cationic-charge-on-antimicrobial-activity-and-cytotoxicity
#9
Natalia Molchanova, Paul Robert Hansen, Peter Damborg, Hanne Mørck Nielsen, Henrik Franzyk
Multidrug-resistant bacteria pose a serious threat to public health worldwide. Previously, α-peptide/β-peptoid hybrid oligomers were found to display activity against Gram-negative multidrug-resistant bacteria. In the present work, the influence of hydrophobicity, fluorination and distribution of cationic/hydrophobic residues on antimicrobial, hemolytic and cytotoxic properties of α-peptide/β-peptoid hybrids were investigated. An array of 22 peptidomimetics was tested. Analogues with enhanced hydrophobicity exhibited increased activity against Gram-positive bacteria...
January 4, 2017: ChemMedChem
https://www.readbyqxmd.com/read/28052028/establishment-and-characterization-of-hypomethylating-agent-resistant-cell-lines-molm-aza-1-and-molm-dec-5
#10
Eun-Hye Hur, Seung-Hyun Jung, Bon-Kwan Goo, Juhyun Moon, Yunsuk Choi, Dae Ro Choi, Yeun-Jun Chung, Je-Hwan Lee
Two hypomethylating agents (HMAs), azacitidine and decitabine, have demonstrated clinical activities in myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML); however, potential problems include development of acquired resistance. HMA-resistant patients have very poor prognosis and this cohort of patients constitutes an important area of research. To understand the mechanisms underlying HMA-resistance and to overcome it, we established an azacitidine-resistant cell line, MOLM/AZA-1 and a decitabine-resistant cell line, MOLM/DEC-5 using MOLM-13...
December 28, 2016: Oncotarget
https://www.readbyqxmd.com/read/28045072/induced-pluripotent-stem-cell-generation-from-a-man-carrying-a-complex-chromosomal-rearrangement-as-a-genetic-model-for-infertility-studies
#11
Aurélie Mouka, Vincent Izard, Gérard Tachdjian, Sophie Brisset, Frank Yates, Anne Mayeur, Loïc Drévillon, Rafika Jarray, Philippe Leboulch, Leila Maouche-Chrétien, Lucie Tosca
Despite progress in human reproductive biology, the cause of male infertility often remains unknown, due to the lack of appropriate and convenient in vitro models of meiosis. Induced pluripotent stem cells (iPSCs) derived from the cells of infertile patients could provide a gold standard model for generating primordial germ cells and studying their development and the process of spermatogenesis. We report the characterization of a complex chromosomal rearrangement (CCR) in an azoospermic patient, and the successful generation of specific-iPSCs from PBMC-derived erythroblasts...
January 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28040139/prenatal-diagnosis-of-paternal-duplication-of-11p15-5%C3%A2-14-3-its-implication-of-beckwith-wiedemann-syndrome
#12
Kuan Ju Chen, Yu Mei Liu, Chien Hong Li, Yao Lung Chang, Shuenn Dyh Chang
OBJECTIVE: To characterize a prenatally detected chromosomal aberration with molecular cytogenetic approaches and explore its relationship with Beckwith-Wiedemann syndrome (BWS). CASE REPORT: A 33-year-old woman, gravida 2, para 0, was referred to our prenatal clinic at 20+ weeks due to an abnormal amniocentesis karyotyping finding, which showed 46,XY,add(11)(q24.2)dn. The mother conceived through in vitro fertilization-intracytoplasmic sperm injection (IVF-ICSI), then embryo transfer...
December 2016: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28040137/prenatal-diagnosis-of-familial-transmission-of-17q12-microduplication-associated-with-no-apparent-phenotypic-abnormality
#13
Chih-Ping Chen, Chung-Hu Fu, Yi-Hui Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis of familial transmission of 17q12 duplication associated with no apparent phenotypic abnormality. CASE REPORT: A 36-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Cytogenetic analysis revealed a karyotype of 46,XY. Array comparative genomic hybridization of uncultured amniocytes revealed a 1.42-Mb duplication of 17q12 or arr 17q12 (34,822,465-36,243,365) × 3 encompassing 12 Online Mendelian Inheritance in Man (OMIM) genes including LHX1, ACACA, and HNF1B...
December 2016: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28040136/clinical-findings-and-molecular-cytogenetic-study-of-de-novo-pure-chromosome-9p-deletion-pre-and-postnatal-diagnosis
#14
Qiao-Fang Hou, Dong Wu, Yan Chu, Shi-Xiu Liao
OBJECTIVE: The aim of this report is to describe the phenotype-genotype correlation of chromosome 9p deletion syndrome cases, particularly the prenatal cases. MATERIALS AND METHODS: A 30-year-old woman was referred to a hospital at 19(+1) weeks of gestation because of omphalocele detected in the fetus. The conventional karyotyping analysis and array comparative genomic hybridization (aCGH) were utilized for the prenatal diagnosis and genetic counseling in the fetus...
December 2016: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28040135/pallister-killian-syndrome-cytogenetics-and-molecular-investigations-of-mosaic-tetrasomy-12p-in-prenatal-chorionic-villus-and-in-amniocytes-strategy-of-prenatal-diagnosis
#15
Francesco Libotte, Domenico Bizzoco, Ivan Gabrielli, Alvaro Mesoraca, Pietro Cignini, Salvatore Giovanni Vitale, Ilaria Marilli, Ferdinando Antonio Gulino, Agnese Maria Chiara Rapisarda, Claudio Giorlandino
OBJECTIVE: Pallister-Killian syndrome (PKS) is a rare, sporadic genetic disorder caused by mosaic tetrasomy of the short arm of chromosome 12 (12p). Clinically, PKS is characterized by several systemic abnormalities, such as intellectual impairment, hearing loss, epilepsy, hypotonia, craniofacial dysmorphism, pigmentary skin anomalies, epilepsy, and a variety of congenital malformations. Prenatally, PKS can be suspected in the presence of ultrasound anomalies: diaphragmatic hernia, rhizomelic micromelia, hydrops fetalis, fetal overweight, ventriculomegaly in the central nervous system, congenital heart defects, or absent visualization of the stomach...
December 2016: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28040133/molecular-cytogenetic-characterization-of-mosaicism-for-a-small-supernumerary-marker-chromosome-derived-from-chromosome-8-or-r-8-p11-22%C3%A2-q11-21-in-an-18-year-old-female-with-short-stature-obesity-attention-deficit-hyperactivity-disorder-and-intellectual-disability
#16
Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chien-Wen Yang, Meng-Shan Lee, Wayseen Wang
OBJECTIVE: We present molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 8. MATERIALS AND METHODS: An 18-year-old female presented with short stature, obesity, developmental delay, speech delay, dyslexia, attention deficit hyperactivity disorder, and intellectual disability. Cytogenetic analysis of the peripheral blood revealed a karyotype of 47,XX,+mar[22]/46,XX[18]. Array comparative genomic hybridization and metaphase fluorescence in situ hybridization analyses were performed on the peripheral blood to determine the origin and mosaicism of the sSMC, and quantitative fluorescent polymerase chain reaction was used to exclude uniparental disomy...
December 2016: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28040132/molecular-cytogenetic-characterization-of-mosaicism-for-a-small-supernumerary-marker-chromosome-derived-from-chromosome-8-or-r-8-p12%C3%A2-q13-1-associated-with-phenotypic-abnormalities
#17
Chih-Ping Chen, Shuan-Pei Lin, Yi-Hui Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chien-Wen Yang, Wen-Lin Chen, Wayseen Wang
OBJECTIVE: We present molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 8. MATERIALS AND METHODS: A 35-year-old woman underwent amniocentesis at 16 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XY,+mar[20]/46,XY[39]. However, array comparative genomic hybridization analysis on the subcultured amniocytes revealed no genomic imbalance. Prenatal ultrasound showed bilateral ventriculomegaly, intrauterine growth restriction, and an enlarged right atrium...
December 2016: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28031238/customized-array-comparative-genomic-hybridization-analysis-of-25-phosphatase-encoding-genes-in-colorectal-cancer-tissues
#18
Izabela Laczmanska, Pawel Skiba, Pawel Karpinski, Marek Bebenek, Maria M Sasiadek
BACKGROUND/AIM: Molecular mechanisms of alterations in protein tyrosine phosphatases (PTPs) genes in cancer have been previously described and include chromosomal aberrations, gene mutations, and epigenetic silencing. However, little is known about small intragenic gains and losses that may lead to either changes in expression or enzyme activity and even loss of protein function. MATERIALS AND METHODS: The aim of this study was to investigate 25 phosphatase genes using customized array comparative genomic hybridization in 16 sporadic colorectal cancer tissues...
January 2017: Cancer Genomics & Proteomics
https://www.readbyqxmd.com/read/28018438/interstitial-deletion-of-5q33-3q35-1-in-a-boy-with-severe-mental-retardation
#19
Jin Hwan Lee, Hyo Jeong Kim, Jung Min Yoon, Eun Jung Cheon, Jae Woo Lim, Kyong Og Ko, Gyung Min Lee
Constitutional interstitial deletions of the long arm of chromosome 5 (5q) are quite rare, and the corresponding phenotype is not yet clearly delineated. Severe mental retardation has been described in most patients who present 5q deletions. Specifically, the interstitial deletion of chromosome 5q33.3q35.1, an extremely rare chromosomal aberration, is characterized by mental retardation, developmental delay, and facial dysmorphism. Although the severity of mental retardation varies across cases, it is the most common feature described in patients who present the 5q33...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28018437/1p36-deletion-syndrome-confirmed-by-fluorescence-in-situ-hybridization-and-array-comparative-genomic-hybridization-analysis
#20
Dong Soo Kang, Eunsim Shin, Jeesuk Yu
Pediatric epilepsy can be caused by various conditions, including specific syndromes. 1p36 deletion syndrome is reported in 1 in 5,000-10,000 newborns, and its characteristic clinical features include developmental delay, mental retardation, hypotonia, congenital heart defects, seizure, and facial dysmorphism. However, detection of the terminal deletion in chromosome 1p by conventional G-banded karyotyping is difficult. Here we present a case of epilepsy with profound developmental delay and characteristic phenotypes...
November 2016: Korean Journal of Pediatrics
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