scholarly journals Chromosome 22q11 deletions, velo-cardio-facial syndrome and early-onset psychosis

2003 ◽  
Vol 183 (5) ◽  
pp. 409-413 ◽  
Author(s):  
D. Ivanov ◽  
G. Kirov ◽  
N. Norton ◽  
H. J. Williams ◽  
N. M. Williams ◽  
...  
Keyword(s):  
Early Onset ◽  
Quantitative Polymerase Chain Reaction ◽  
Age At Onset ◽  
Childhood Onset ◽  
Single Nucleotide ◽  
Chromosome 22Q11 ◽  
Childhood Onset Schizophrenia ◽  
Early Onset Psychosis ◽  
Polymerase Chain ◽  
Velo Cardio Facial Syndrome

BackgroundVelo-cardio-facial syndrome (VCFS) is associated with interstitial deletions of chromosome 22q11. About 30% of patients with VCFS have psychosis, and the rate of these deletions in schizophrenia has been reported to be about 1%. Even higher rates of VCFS deletions have been reported for childhood-onset schizophrenia.AimsTo test the hypothesis that there is an increased rate of VCFS among patients with early-onset psychosis (age at onset < 18 years). We screened 192 early-onset patients and 329 patients with adult-onset schizophrenia.MethodWe genotyped the patients and 444 healthy controls for hemizygosity of five microsatellite markers and one single nucleotide polymorphism that map to the 22q11-deleted region.ResultsOne patient had a VCFS deletion, confirmed with semi-quantitative polymerase chain reaction. None of the controls showed a pattern of genotypes consistent with hemizygosity.ConclusionsVCFS may be less frequent among patients with psychosis than previously suggested; this rate is not increased among early-onset patients.

scholarly journals Cellular microRNA detection with miRacles: microRNA- activated conditional looping of engineered switches

2019 ◽  
Vol 5 (3) ◽  
pp. eaau9443 ◽  
Author(s):  
Arun Richard Chandrasekaran ◽  
Molly MacIsaac ◽  
Paromita Dey ◽  
Oksana Levchenko ◽  
Lifeng Zhou ◽  
...  
Keyword(s):  
Quantitative Polymerase Chain Reaction ◽  
Northern Blotting ◽  
Single Step ◽  
Single Nucleotide ◽  
Disease Biomarkers ◽  
Microrna Detection ◽  
Detection Assay ◽  
Polymerase Chain ◽  
Regulatory Rnas ◽  
Nucleotide Specificity

MicroRNAs are short noncoding regulatory RNAs that are increasingly used as disease biomarkers. Detection of microRNAs can be arduous and expensive and often requires amplification, labeling, or radioactive probes. Here, we report a single-step, nonenzymatic microRNA detection assay using conformationally responsive DNA nanoswitches. Termed miRacles (microRNA-activated conditional looping of engineered switches), our assay has subattomole sensitivity and single-nucleotide specificity using an agarose gel electrophoresis readout. We detect cellular microRNAs from nanogram-scale RNA extracts of differentiating muscle cells and multiplex our detection for several microRNAs from one biological sample. We demonstrate 1-hour detection without expensive equipment or reagents, making this assay a compelling alternative to quantitative polymerase chain reaction and Northern blotting.

scholarly journals The expression and mutation of <i>BMPR1B</i> and its association with litter size in small-tail Han sheep (<i>Ovis aries</i>)

2021 ◽  
Vol 64 (1) ◽  
pp. 211-221
Author(s):  
Yu-Liang Wen ◽  
Xiao-Fei Guo ◽  
Lin Ma ◽  
Xiao-Sheng Zhang ◽  
Jin-Long Zhang ◽  
...  
Keyword(s):  
Litter Size ◽  
Quantitative Polymerase Chain Reaction ◽  
Follicular Development ◽  
Follicular Phase ◽  
Ovis Aries ◽  
Negative Effects ◽  
Single Nucleotide ◽  
Ovarian Granulosa Cell ◽  
Polymerase Chain ◽  
Genotype And Allele Frequencies

Abstract. Previous studies have shown that BMPR1B promotes follicular development and ovarian granulosa cell proliferation, thereby affecting ovulation in mammals. In this study, the expression and polymorphism of the BMPR1B gene associated with litter size in small-tail Han (STH) sheep were determined. The expression of BMPR1B was detected in 14 tissues of STH sheep during the follicular phase as well as in the hypothalamic–pituitary–gonadal (HPG) axis of monotocous and polytocous STH sheep during the follicular and luteal phases using quantitative polymerase chain reaction (qPCR). Sequenom MassARRAY® single nucleotide polymorphism (SNP) technology was also used to detect the polymorphism of SNPs in seven sheep breeds. Here, BMPR1B was highly expressed in hypothalamus, ovary, uterus, and oviduct tissue during the follicular phase, and BMPR1B was expressed significantly more in the hypothalamus of polytocous ewes than in monotocous ewes during both the follicular and luteal phases (P<0.05). For genotyping, we found that genotype and allele frequencies of three loci of the BMPR1B gene were extremely significantly different (P<0.01) between the monotocous and polytocous groups. Association analysis results showed that the g.29380965A>G locus had significant negative effects on the litter size of STH sheep, and the combination of g.29380965A>G and FecB (Fec – fecundity and B – Booroola; A746G) at the BMPR1B gene showed that the litter size of AG–GG, AA–GG, and GG–GG genotypes was significantly higher compared with other genotypes (P<0.05). This is the first study to find a new molecular marker affecting litter size and to systematically analyze the expression of BMPR1B in different fecundity and physiological periods of STH sheep.

Multiplex SNP genotyping in whole blood using an integrated microfluidic lab-on-a-chip

Lab on a Chip ◽  
2016 ◽  
Vol 16 (20) ◽  
pp. 4012-4019 ◽  
Author(s):  
L. Zhang ◽  
Q. Cai ◽  
R. S. Wiederkehr ◽  
M. Fauvart ◽  
P. Fiorini ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Quantitative Polymerase Chain Reaction ◽  
Cross Flow ◽  
Lab On A Chip ◽  
Nucleotide Polymorphisms ◽  
Chain Reaction ◽  
Single Nucleotide ◽  
Blood Lysis ◽  
Polymerase Chain ◽  
Silicon Based

We present a silicon-based integrated microsystem combining a blood lysis chamber, a cross-flow filter, a T-junction mixer, and a microreactor for quantitative polymerase chain reaction. The detection of multiple single nucleotide polymorphisms was demonstrated in the system from human blood.

scholarly journals MRPrimerW2: an enhanced tool for rapid design of valid high-quality primers with multiple search modes for qPCR experiments

2019 ◽  
Vol 47 (W1) ◽  
pp. W614-W622 ◽  
Author(s):  
Hajin Jeon ◽  
Jeongmin Bae ◽  
Sang-Hyun Hwang ◽  
Kyu-Young Whang ◽  
Hyun-Seob Lee ◽  
...  
Keyword(s):  
Quantitative Polymerase Chain Reaction ◽  
Free Access ◽  
Target Sequence ◽  
Single Pair ◽  
High Quality ◽  
Single Nucleotide ◽  
Complete Set ◽  
Polymerase Chain ◽  
Target Sequences ◽  
Search Modes

Abstract For the best results in quantitative polymerase chain reaction (qPCR) experiments, it is essential to design high-quality primers considering a multitude of constraints and the purpose of experiments. The constraints include many filtering constraints, homology test on a huge number of off-target sequences, the same constraints for batch design of primers, exon spanning, and avoiding single nucleotide polymorphism (SNP) sites. The target sequences are either in database or given as FASTA sequences, and the experiment is for amplifying either each target sequence with each corresponding primer pairs designed under the same constraints or all target sequences with a single pair of primers. Many websites have been proposed, but none of them including our previous MRPrimerW fulfilled all the above features. Here, we describe the MRPrimerW2, the update version of MRPrimerW, which fulfils all the features by maintaining the advantages of MRPrimerW in terms of the kinds and sizes of databases for valid primers and the number of search modes. To achieve it, we exploited GPU computation and a disk-based key-value store using PCIe SSD. The complete set of 3 509 244 680 valid primers of MRPrimerW2 covers 99% of nine important organisms in an exhaustive manner. Free access: http://MRPrimerW2.com

scholarly journals Total agenesis of the corpus callosum in a patient with childhood-onset schizophrenia

2007 ◽  
Vol 65 (4b) ◽  
pp. 1216-1219 ◽  
Author(s):  
Jaime Eduardo Cecilio Hallak ◽  
José Alexandre de Sousa Crippa ◽  
Joel Porfírio Pinto ◽  
João Paulo Machado de Sousa ◽  
Clarissa Trzesniak ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Early Onset ◽  
Childhood Onset ◽  
Interhemispheric Communication ◽  
Neurodevelopmental Model ◽  
Childhood Onset Schizophrenia ◽  
Hemispheric Communication ◽  
Precise Role

The hypothesis that schizophrenia involves aberrant inter-hemispheric communication has a long pedigree, however its precise role remains unclear. We therefore report the case of a total agenesis of the corpus callosum in a 21-year-old man with childhood-onset schizophrenia. The presence of schizophrenia with very early onset on absence of corpus callosum offers an opportunity to examine neurodevelopmental model and theories regarding to interhemispheric communication in the pathogenesis of psychosis.

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