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https://www.readbyqxmd.com/read/30514802/deep-targeted-sequencing-of-tp53-in-chronic-lymphocytic-leukemia-clinical-impact-at-diagnosis-and-at-time-of-treatment
#1
Christian Brieghel, Savvas Kinalis, Christina W Yde, Ane Y Schmidt, Lars Jønson, Michael A Andersen, Caspar da Cunha-Bang, Lone B Pedersen, Christian H Geisler, Finn C Nielsen, Carsten U Niemann
In chronic lymphocytic leukemia, TP53 mutations and deletion of chromosome 17p are well-characterized biomarkers associated with poor progression-free and overall survival following chemoimmunotherapy. Patients harboring low burden TP53 mutations with variant allele frequencies of 0.3-15% have been shown to have similar dismal outcome as those with high burden mutations. We here describe a highly sensitive deep targeted Next Generation Sequencing assay allowing for the detection of TP53 mutations as low as 0...
December 4, 2018: Haematologica
https://www.readbyqxmd.com/read/30512175/-study-of-genetic-polymorphisms-of-7-y-chromosome-single-nucleotide-polymorphism-loci-among-mongolians-from-inner-mongolia-region
#2
Li Li, Xiaoyan You, Mingxia Zhong, Lei Wang, Weizhe Li, Zhaoshu Zeng
OBJECTIVE: To study the genetic polymorphisms of 7 Y chromosome single nucleotide polymorphisms (Y-SNPs) among unrelated Mongolian males from Inner Mongolia Region. METHODS: Seven Y-SNPs with expected allelic frequencies close to 0.50:0.50 in Mongolian population were selected from databases including HapMap and relevant literature. The Y-SNPs were then analyzed among 95 unrelated male Mongolian DNA samples with ligase detection reaction (LDR) technique. Statistical analysis was carried out with Arlequin 3...
December 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/30512166/-genetic-study-of-a-fetus-with-a-de-novo-xp22-33-yp11-2-translocation
#3
Xuejiao Chen, Meizhen Dai, Ying Zhu, Zhehang He, Yang Zhang, Yihong Pan, Weiwu Shi
OBJECTIVE: To delineate cytogenetic and molecular abnormalities of a fetus carrying a de novo 46,X,der(X),t(X;Y)(p22.3;p11.2). METHODS: G-banded karyotyping and next-generation sequencing (NGS) were used to analyze the fetus, his father and sister. Single nucleotide polymorphism-based arrays (SNP-array), multiple PCR and fluorescence in situ hybridization (FISH) were utilized to verify the result. RESULTS: G-banded karyotyping at 320 bands showed that the fetus had a normal karyotype, while NGS has identified a 3...
December 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/30512150/-genetic-analysis-of-a-46-xy-female-with-sex-reversal-due-to-duplication-of-nr0b1-gene
#4
Shengfang Qin, Xueyan Wang, Yunxing Li
OBJECTIVE: To explore the pathogenesis of a 46,XY female with sex reversal. METHODS: Peripheral blood lymphocytes of the patient were subjected to G-banding karyotype analysis. Sex chromosomes were analyzed with fluorescence in situ hybridization (FISH). SRY gene was analyzed by Sanger sequencing. The whole exome of the patient was subjected to next generation sequencing. Copy number variations (CNVs) of the NR0B1, SF1, SRY, SOX9 and WNT4 genes were validated by multiplex ligation-dependent probe amplification (MLPA)...
December 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/30510563/genetic-landscape-of-slovenians-past-admixture-and-natural-selection-pattern
#5
Pierpaolo Maisano Delser, Metka Ravnik-Glavač, Paolo Gasparini, Damjan Glavač, Massimo Mezzavilla
The Slovenian territory played a crucial role in the past serving as gateway for several human migrations. Previous studies used Slovenians as a source population to interpret different demographic events happened in Europe but not much is known about the genetic background and the demographic history of this population. Here, we analyzed genome-wide data from 96 individuals to shed light on the genetic role and history of the Slovenian population. Y chromosome diversity splits into two major haplogroups R1b and R1a with the latter suggesting a genetic contribution from the steppe...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/30510122/mosaic-y-loss-is-moderately-associated-with-solid-tumor-risk
#6
Erikka Loftfield, Weiyin Zhou, Meredith Yeager, Stephen J Chanock, Neal D Freedman, Mitchell J Machiela
Mosaic loss of the Y chromosome (mLOY) in peripheral leukocytes is a somatic event in which a fraction of leukocytes have lost the entire Y chromosome. The frequency of mLOY increases with age and may reflect poor genomic maintenance as well as clonal imbalances in normal immune function, making mLOY an attractive candidate marker for cancer risk. Here we investigated the relationship between mLOY and incident cancer in a large sample of 207,603 cancer-free men from the UK Biobank in which 13,895 men developed an incident solid tumor during follow-up...
December 3, 2018: Cancer Research
https://www.readbyqxmd.com/read/30506867/population-genetics-of-19-y-str-loci-in-yanbian-korean-samples-from-china
#7
Jin-Feng Xuan, Atif Adnan, Rehan Ali Khan, Jia-Xin Xing, Jun Yao, Bao-Jie Wang
BACKGROUND: China harbors 56 ethnic groups, including Korean, with a population size of approximately 1.92 million at the 2010 census. Most of the Koreans live in Northeastern parts of China, including Jilin (59.64%), Heilongjiang (20.21%), and Liaoning (12.55%) provinces, and the rest are spread to other parts of China. Koreans across China share a common culture, which is similar to Korea. METHODS: We have explored the genetic characteristics of 20 Y-chromosomal short tandem repeat (Y-STR) loci in 252 unrelated Chinese Korean male individuals from Jilin Province, using a Goldeneye 20Y amplification kit...
December 2, 2018: Annals of Human Genetics
https://www.readbyqxmd.com/read/30506208/noninvasive-detection-of-fetal-aneuploidy-using-next-generation-sequencing
#8
Kirsten J Curnow, Rebecca K Sanderson, Sue Beruti
Cell-free DNA (cfDNA)-based noninvasive prenatal testing (NIPT) utilizing next generation sequencing (NGS) is a highly sensitive and specific approach designed to screen for fetal aneuploidy. NIPT was first introduced in 2011 and has been rapidly adopted in a clinical setting because of the improved performance afforded compared with traditional prenatal serum screening options. We describe a PCR-free, paired-end sequencing-based NIPT, the VeriSeq NIPT Solution. This NIPT screens for fetal aneuploidy of chromosomes 21, 18, 13, X, and Y...
2019: Methods in Molecular Biology
https://www.readbyqxmd.com/read/30506197/multiplex-ligation-dependent-probe-amplification-mlpa-for-prenatal-diagnosis-of-common-aneuploidies
#9
Jan Schouten, Paul van Vught, Robert-Jan Galjaard
Multiplex Ligation-dependent Probe Amplification (MLPA) is a method to determine the copy number of up to 60 genomic DNA sequences in a single multiplex PCR based reaction.MLPA probes consist of two oligonucleotides that can hybridize next to each other on a certain DNA sequence of interest, where they are ligated. All ligated probes are subsequently amplified by PCR using a single set of primers. Each amplified MLPA probe has a unique length and can be visualized and quantified by capillary electrophoresis...
2019: Methods in Molecular Biology
https://www.readbyqxmd.com/read/30505335/sex-chromosomal-dimorphisms-narrated-by-x-chromosome-translocation-in-a-spiny-frog-quasipaa-boulengeri
#10
Xiuyun Yuan, Yun Xia, Xiaomao Zeng
Background: In the general model of sex chromosome evolution for diploid dioecious organisms, the Y (or W) chromosome is derived, while the homogametic sex presumably represents the ancestral condition. However, in the frog species Quasipaa boulengeri , heteromorphisms caused by a translocation between chromosomes 1 and 6 are not related to sex, because the same heteromorphic chromosomes are found both in males and females at the cytological level. To confirm whether those heteromorphisms are unrelated to sex, a sex-linked locus was mapped at the chromosomal level and sequenced to identify any haplotype difference between sexes...
2018: Frontiers in Zoology
https://www.readbyqxmd.com/read/30505189/cytogenetic-and-genetic-study-of-a-y-linked-microsatellite-polymorphism-in-polish-black-and-white-cattle-breed
#11
Rafał Parada, Magdalena Kawka, Mariusz Sacharczuk, Paweł Urbański, Kazimierz Jaszczak
The aim of the current study was to characterize Polish Black-and-White cattle by morphological study of the Y chromosome. A total of 14 Y-linked microsatellites from UMN and INRA group were genotyped and assessed for polymorphism in a total 22 bulls. Cytogenetic studies in Polish Black-and-White bulls showed the existence of two morphological forms of Y chromosome. Among the 22 karyotypic analyzed bulls, 12 had submetacentric and 10 metacentric Y chromosome. The centromeric index of Y chromosome measured as percentage length of the p arm to total length ratio in the first case was 28 ± 3...
November 2018: Saudi Journal of Biological Sciences
https://www.readbyqxmd.com/read/30504708/accumulation-of-transposable-elements-in-autosomes-and-giant-sex-chromosomes-of-omophoita-chrysomelidae-alticinae
#12
Lucas A M Rosolen, Marcelo R Vicari, Mara C Almeida
Coleoptera is the most diverse order among insects, and comparative molecular cytogenetic studies in this group are lacking. The species of Omophoita (Oedionychina) possess a karyotype of 2n = 22 = 10II+X+Y. They are interesting models for evolutionary cytogenetic studies due to giant sex chromosomes which are asynaptic during meiosis. Transposable elements (TEs) confer plasticity and mobility to genomes and are considered hotspots for DNA double-strand breaks and chromosomal rearrangements. The objective of the present study was to verify the role of TEs in the karyotype and in the size expansion of the giant sex chromosomes in Omophoita...
December 1, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/30504706/a-rare-mosaic-karyotype-of-45-x-46-x-psu-idic-y-p11-32-46-xy-with-shox-haploinsufficiency-external-male-genitalia-and-short-stature
#13
Cemal Ekici, Zeynep Esener, Selcen Korkmaz, Nihal Saltürk, Sengul Yüksel, Ahmet Koç
In this case study, we describe a 3-year-old boy who was referred to the Inonu University Hospital with short stature complaint. His height was 86 cm (-2.96 SDS), weight was 12 kg (-2.43 SDS), and head circumference was 46.5 cm (-2.34 SDS). Chromosomal analyses were performed on cultured peripheral blood lymphocytes of the patient and his parents and showed the patient's karyotype mos 45,X[20]/46,X,idic(Y)(p11.32)[29]/46,XY[1]. The karyotypes of the parents were normal. Subsequently, specific FISH probes were hybridized to the related regions of the sex-determining region Y (SRY), centromere X/Y (CEP X/Y), and short stature homeobox (SHOX) genes...
December 1, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/30499012/incidence-of-y-chromosome-microdeletions-in-patients-with-klinefelter-syndrome
#14
F Sciarra, M Pelloni, F Faja, F Pallotti, G Martino, A F Radicioni, A Lenzi, F Lombardo, D Paoli
PURPOSE: The aim of this study was to study the incidence of Y chromosome microdeletions in a Caucasian population of Klinefelter syndrome (KS) patients and to investigate the possible association between Y chromosome microdeletions and KS. MATERIALS AND METHODS: We conducted a retrospective study on 118 KS patients, 429 patients with non-obstructive azoospermia (NOA), and 155 normozoospermic men. Eight of the 118 KS patients had undergone testicular sperm extraction (TESE)...
November 29, 2018: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/30496702/heat-shock-induced-mitotic-arrest-requires-heat-shock-protein-105-for-the-activation-of-spindle-assembly-checkpoint
#15
Ayana Kakihana, Yui Oto, Youhei Saito, Yuji Nakayama
Heat shock causes proteotoxic stress that induces various cellular responses, including delayed mitotic progression and the generation of an aberrant number of chromosomes. In this study, heat shock delayed the onset of anaphase by increasing the number of misoriented cells, accompanied by the kinetochore localization of budding uninhibited by benzimidazole-related (BubR)1 in a monopolar spindle (Mps)1-dependent manner. The mitotic delay was canceled by knockdown of mitotic arrest defect (Mad)2. Knockdown of heat shock protein (Hsp)105 partially abrogated the mitotic delay with the loss of the kinetochore localization of BubR1 under heat shock conditions and accelerated mitotic progression under nonstressed conditions...
November 29, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/30483659/sequencing-of-231-forensic-genetic-markers-using-the-miseq-fgx%C3%A2-forensic-genomics-system-an-evaluation-of-the-assay-and-software
#16
Christian Hussing, Christina Huber, Rajmonda Bytyci, Helle S Mogensen, Niels Morling, Claus Børsting
The MiSeq FGx™ Forensic Genomics System types 231 genetic markers in one multiplex polymerase chain reaction (PCR) assay. The markers include core forensic short tandem repeats (STRs) as well as identity, ancestry and phenotype informative short nucleotide polymorphisms (SNPs). In this work, the MiSeq FGx™ Forensic Genomics System was evaluated by analysing reproducibility, sensitivity, mixture identification and forensic phenotyping capabilities of the assay. Furthermore, the genotype calling of the ForenSeq™ Universal Analysis Software was verified by analysing fastq...
2018: Forensic sciences research
https://www.readbyqxmd.com/read/30481905/-application-of-chromosomal-analysis-for-29-cases-of-fetuses-with-nasal-bone-absence-or-hypoplasia
#17
L Hou, X X Wang, H L Jiang, T Zhang, L Li, W Y Zhang, X Wang
Objectives: To explore the chromosomal analysis for fetuses with nasal bone absence or hypoplasia. Methods: This was a retrospective study on 29 pregnancies nasal bone absence or hypoplasia which underwent prenatal diagnosis, including chorionic villi (CV), amniotic fluid or cordocentesis.The indication of the procedures and results were evaluated. Result: Fifteen (51.7%, 15/29) of chromosome abnormities were diagnosed with indication of fetal nasal bone absence or hypoplasia, including eight with trisomy 21, two with trisomy 13, two with X chromosome aneuploidy and three with pathogenic copy number variations (CNVs) respectively...
November 20, 2018: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/30481341/the-origin-and-population-history-of-the-endangered-golden-snub-nosed-monkey-rhinopithecus-roxellana
#18
Wei-Min Kuang, Chen Ming, Hai-Peng Li, Hong Wu, Laurent Frantz, Christian Roos, Ya-Ping Zhang, Cheng-Lin Zhang, Ting Jia, Jing-Yuan Yang, Li Yu
The origin and population history of the endangered golden snub-nosed monkey (Rhinopitheucs roxellana) remain largely unavailable and/or controversial. We here integrate analyses of multiple genomic markers including mitochondrial (mt) genomes, Y chromosomes and autosomes of 54 golden monkey individuals from all three geographic populations (SG, QL and SNJ). Our results reveal contrasting population structures. Mt analyses suggest a division of golden monkeys into five lineages, one in SNJ and two in SG and two in QL...
November 27, 2018: Molecular Biology and Evolution
https://www.readbyqxmd.com/read/30481092/determination-of-spontaneous-dicentric-frequencies-and-establishment-of-dose-response-curves-after-expose-of-human-peripheral-blood-lymphocytes-to-low-and-high-dose-rate-60-co-gamma-rays-the-basis-for-cytogenetic-biodosimetry-in-vietnam
#19
Pham Ngoc-Duy, Minh-Hiep Nguyen, Que Tran, Quang-Tuan Che, Van-Hung Nguyen, Van-Toan Phan, Van-Dung Pham, Suen Ern Lee, Thi-Linh-Tien Vo
PURPOSE: The purposes of this study are to investigate spontaneous dicentric frequencies and dose response curves of dicentrics induced by gamma 60 Co for replenishing the data sets used for biodosimetry in Vietnam. MATERIALS AND METHODS: 104 healthy donor blood samples were collected for chromosome aberrations background study, 03 healthy donor blood samples were used for generating the dose response curves at 1.96 mGy/min and 275 mGy/min. Blood collection, in vitro irradiation, cell culture and harvest, slide preparation and metaphase scoring were performed according to IAEA standard protocol (2011)...
November 27, 2018: International Journal of Radiation Biology
https://www.readbyqxmd.com/read/30480452/200-protein-concentrations-in-healthy-human-blood-plasma-targeted-quantitative-srm-sis-screening-of-chromosomes-18-13-y-and-the-mitochondrial-chromosome-encoded-proteome
#20
Arthur T Kopylov, Elena A Ponomarenko, Ekaterina V Ilgisonis, Mikhail A Pyatnitskiy, Andrey V Lisitsa, Ekaterina V Poverennaya, Olga I Kiseleva, Tatiana E Farafonova, Olga V Tikhonova, Maria G Zavialova, Svetlana Novikova, Sergei A Moshkovskii, Sergey P Radko, Boris V Morukov, Anatoly I Grigoriev, Young-Ki Paik, Ghasem Hosseini Salekdeh, Andrea Urbani, Victor G Zgoda, Alexander I Archakov
This work continues the series of the quantitative measurements of the proteins encoded by different chromosomes in the blood plasma of a healthy person. Selected Reaction Monitoring with Stable Isotope-labeled peptide Standards (SRM SIS) and a gene-centric approach, which is the basis for the implementation of the international Chromosome-centric Human Proteome Project (C-HPP), were applied for the quantitative measurement of proteins in human blood plasma. Analyses were carried out in the frame of C-HPP for each protein-coding gene of the four human chromosomes: 18, 13, Y and mitochondrial...
November 27, 2018: Journal of Proteome Research
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