keyword
MENU ▼
Read by QxMD icon Read
search

short tandem repeats

keyword
https://www.readbyqxmd.com/read/29783171/ghep-isfg-collaborative-exercise-on-mixture-profiles-ghep-mix06-reporting-conclusions-results-and-evaluation
#1
P A Barrio, M Crespillo, J A Luque, M Aler, C Baeza-Richer, L Baldassarri, E Carnevali, P Coufalova, I Flores, O García, M A García, R González, A Hernández, V Inglés, G M Luque, A Mosquera-Miguel, S Pedrosa, M L Pontes, M J Porto, Y Posada, M I Ramella, T Ribeiro, E Riego, A Sala, V G Saragoni, A Serrano, S Vannelli
One of the main goals of the Spanish and Portuguese-Speaking Group of the International Society for Forensic Genetics (GHEP-ISFG) is to promote and contribute to the development and dissemination of scientific knowledge in the field of forensic genetics. Due to this fact, GHEP-ISFG holds different working commissions that are set up to develop activities in scientific aspects of general interest. One of them, the Mixture Commission of GHEP-ISFG, has organized annually, since 2009, a collaborative exercise on analysis and interpretation of autosomal short tandem repeat (STR) mixture profiles...
May 18, 2018: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/29779152/genetic-analysis-of-39-y-str-loci-in-a-han-population-from-henan-province-central-china
#2
Yanmei Huang, Liwei Guo, Mengge Wang, Cui Zhang, Lixia Kang, Kejie Wang, Yalei Ma, Huiyong Jiao, Xi Li, Hongyu Sun
A total of 39 Y-chromosomal short tandem repeat (Y-STR) loci included in the advanced commercial six-dye multiplex system (AGCU Database Y30 kit) and a custom-designed four-dye multiplex system were investigated in 259 unrelated healthy Chinese males residing in Henan Province, central China. The haplotype diversity (HD) values were 0.99997 and 1.0000 for the six and four fluorescent-multiplex amplification systems, respectively. The discrimination capacity (DC) values were 0.9961 and 1.0000, respectively. When the 39 Y-STR loci were considered, 259 unique haplotypes were obtained in Henan Han individuals with both the haplotype diversity and discrimination capacity being 1...
May 19, 2018: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/29779151/genetic-portrait-and-phylogenetic-analysis-of-an-aksu-uyghur-population-based-on-the-19-x-str-system
#3
Ye Li, Jihong Zeng, Yujiang Fan, Guanglin He, Mingkun Xie, Tianzhen Gao, Shouyu Wang, Jin Wu
The X chromosome has a special mode of inheritance, and is thus a rich resource for population studies. In this study, the allele frequencies and forensic statistics of the 19 X chromosomal short tandem repeat loci were evaluated in 500 Uyghur individuals from Aksu Prefecture in northwest China. We further aimed to study whether the Uyghur populations located in various regions of Xinjiang share similar allele and haplotype frequency distributions, as they have experienced genetic exchanges. Population comparisons, PCA and MDS were performed for the Uyghurs and 27 populations and the results indicate that the Uyghur minority in Aksu has a relatively close phylogenetic relationship with East Asians, especially the Kazakh minority...
May 19, 2018: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/29778046/evaluation-of-the-microhaplotypes-panel-for-dna-mixture-analyses
#4
Peng Chen, Caiyong Yin, Zheng Li, Yan Pu, Youjia Yu, Peng Zhao, Dexin Chen, Weibo Liang, Lin Zhang, Feng Chen
The identification of a suspect in a DNA mixture typed with the standard short tandem repeat polymorphism (STR) kits has faced challenges. Several improved methods or technologies have been introduced to address this issue. However, some complex situations in the process remain elusive. In the present study, we presented a panel of 26 tiny microhaplotypes, each generating a relatively high (>3.0) effective number of alleles (Ae ) and possessing low (<50 bp) sequence lengths. The average Ae and heterozygosity values among the 9 populations of 26 microhaps were in ranges from 2...
May 12, 2018: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/29772597/development-of-a-massively-parallel-sequencing-assay-for-investigating-sequence-polymorphisms-of-15-strs-in-a-chinese-northern-han-population
#5
Qing-Xia Zhang, Meng Yang, Ya-Jiao Pan, Jing Zhao, Bao-Wang Qu, Feng Cheng, Ya-Ran Yang, Zhang-Ping Jiao, Li Liu, Jiang-Wei Yan
Massively parallel sequencing (MPS) has been used in forensic genetics in recent years owing to several advantages, such as MPS can provide precise descriptions of the repeat allele structure and variation in the repeat-flanking regions, increasing the discriminating power among loci and individuals. However, it cannot be fully utilized unless sufficient population data is available for all loci. Thus, there is a pressing need to perform population studies providing a basis for the introduction of MPS into forensic practice...
May 17, 2018: Electrophoresis
https://www.readbyqxmd.com/read/29770143/a-census-of-tandemly-repeated-polymorphic-loci-in-genic-regions-through-the-comparative-integration-of-human-genome-assemblies
#6
Loredana M Genovese, Filippo Geraci, Lucia Corrado, Eleonora Mangano, Romina D'Aurizio, Roberta Bordoni, Marco Severgnini, Giovanni Manzini, Gianluca De Bellis, Sandra D'Alfonso, Marco Pellegrini
Polymorphic Tandem Repeat (PTR) is a common form of polymorphism in the human genome. A PTR consists in a variation found in an individual (or in a population) of the number of repeating units of a Tandem Repeat (TR) locus of the genome with respect to the reference genome. Several phenotypic traits and diseases have been discovered to be strongly associated with or caused by specific PTR loci. PTR are further distinguished in two main classes: Short Tandem Repeats (STR) when the repeating unit has size up to 6 base pairs, and Variable Number Tandem Repeats (VNTR) for repeating units of size above 6 base pairs...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29764212/the-clinical-application-of-single-sperm-based-snp-haplotyping-for-pgd-of-osteogenesis-imperfecta
#7
Linjun Chen, Zhenyu Diao, Zhipeng Xu, Jianjun Zhou, Guijun Yan, Haixiang Sun
Osteogenesis imperfecta (OI) is a genetically heterogeneous disorder, presenting either autosomal dominant, autosomal recessive or X-linked inheritance patterns. The majority of OI cases are autosomal dominant and are caused by heterozygous mutations in either the COL1A1 or COL1A2 gene. In these dominant disorders, allele dropout (ADO) can lead to misdiagnosis in preimplantation genetic diagnosis (PGD). Polymorphic markers linked to the mutated genes have been used to establish haplotypes for identifying ADO and ensuring the accuracy of PGD...
May 15, 2018: Systems Biology in Reproductive Medicine
https://www.readbyqxmd.com/read/29755260/characterization-of-the-complete-mitochondrial-dna-of-theretra-japonica-and-its-phylogenetic-position-within-the-sphingidae-lepidoptera-sphingidae
#8
Jun Li, Rui-Rui Lin, Yao-Yao Zhang, Kun-Jie Hu, Ya-Qi Zhao, Yan Li, Zhuo-Ran Huang, Xu Zhang, Xue-Xia Geng, Jian-Hua Ding
In the present study, the complete mitogenome of Theretra japonica was sequenced and compared with other sequenced mitogenomes of Sphingidae species. The mitogenome of T. japonica , containing 37 genes (13 protein-coding genes, 22 tRNA genes, and two rRNA genes) and a region rich in adenine and thymine (AT-rich region), is a circular molecule with 15,399 base pairs (bp) in length. The order and orientation of the genes in the mitogenome are similar to those of other sequenced mitogenomes of Sphingidae species...
2018: ZooKeys
https://www.readbyqxmd.com/read/29743854/microsatellite-instability-in-colorectal-cancer
#9
REVIEW
Jafar Nouri Nojadeh, Shahin Behrouz Sharif, Ebrahim Sakhinia
Colorectal cancer (CRC) is a heterogeneous disease that is caused by the interaction of genetic and environmental factors. Although it is one of the most common cancers worldwide, CRC would be one of the most curable cancers if it is detected in the early stages. Molecular changes that occur in colorectal cancer may be categorized into three main groups: 1) Chromosomal Instability (CIN), 2) Microsatellite Instability (MSI), and 3) CpG Island Methylator phenotype (CIMP). Microsatellites, also known as Short Tandem Repeats (STRs) are small (1-6 base pairs) repeating stretches of DNA scattered throughout the entire genome and account for approximately 3 % of the human genome...
2018: EXCLI journal
https://www.readbyqxmd.com/read/29739989/haplotypic-polymorphisms-and-mutation-rate-estimates-of-22-y-chromosome-strs-in-the-northern-chinese-han-father-son-pairs
#10
Yaran Yang, Weini Wang, Feng Cheng, Man Chen, Tong Chen, Jing Zhao, Chong Chen, Yan Shi, Chen Li, Chuguang Chen, Yacheng Liu, Jiangwei Yan
Y chromosome Short tandem repeats (Y-STRs) analysis has been widely used in forensic identification, kinship testing, and population evolution. An accurate understanding of haplotype and mutation rate will benefit these applications. In this work, we analyzed 1123 male samples from Northern Chinese Han population which including 578 DNA-confirmed father-son pairs at 22 Y-STRs loci. A total of 537 haplotypes were observed and the overall haplotype diversity was calculated as 1.0000 ± 0.0001. Except that only two haplotypes were observed twice, all the rest of the 535 were unique...
May 8, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29738551/identification-of-genetic-linkage-group-1-linked-sequences-in-japanese-eel-anguilla-japonica-by-single-chromosome-sorting-and-sequencing
#11
Kazumi Matsubara, Yuki Iwasaki, Issei Nishiki, Kazuharu Nomura, Atushi Fujiwara
Japanese eel (Anguilla japonica) constitutes one of the most important food fish in Japan; accordingly, genome sequencing and linkage mapping have been conducted for the purpose of artificial cultivation. In the next stage, integration of genomic sequences within linkage groups (LG) is required to construct higher-resolution genetic markers for quantitative trait loci mapping and selective breeding of beneficial traits in farming. In order to identify LG1-linked scaffolds from the draft genome assembly (323,776 scaffolds) reported previously, we attempted to isolate chromosomes corresponding to LG1 by flow sorting and subsequent analyses...
2018: PloS One
https://www.readbyqxmd.com/read/29737420/genetic-polymorphisms-of-32-y-str-loci-in-meizhou-hakka-population
#12
Weian Du, Weibin Wu, Zihao Wu, Longjun Guo, Bangchao Wang, Ling Chen
Using AGCU Y24 Plus PCR Amplification Kit, 32 Y short tandem repeat (STR) loci were analyzed in 355 unrelated male participants of Meizhou city in Guangdong Province of China. By analyzing 341 different haplotypes, it was found that haplotype diversity (HD) and discrimination capacity (DC) were 0.9995 and 0.9605, respectively. Population relationships were analyzed by comparing Hakka population with ten other populations. The results indicate that Meizhou Hakka population was closely related to Guangdong Han population...
May 8, 2018: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/29730711/pronounced-maternal-parent-of-origin-bias-for-type-1-nf1-microdeletions
#13
Lisa Neuhäusler, Anna Summerer, David N Cooper, Victor-F Mautner, Hildegard Kehrer-Sawatzki
Neurofibromatosis type 1 (NF1) is caused, in 4.7-11% of cases, by large deletions encompassing the NF1 gene and its flanking regions within 17q11.2. Different types of large NF1 deletion occur which are distinguishable by their breakpoint location and underlying mutational mechanism. Most common are the type-1 NF1 deletions of 1.4 Mb which exhibit recurrent breakpoints caused by nonallelic homologous recombination (NAHR), also termed unequal crossover. Here, we analyzed 37 unrelated families of patients with de novo type-1 NF1 deletions by means of short tandem repeat (STR) profiling to determine the parental origin of the deletions...
May 5, 2018: Human Genetics
https://www.readbyqxmd.com/read/29721270/increased-dna-typing-success-for-feces-and-feathers-of-capercaillie-tetrao-urogallus-and-black-grouse-tetrao-tetrix
#14
Stephanie Vallant, Harald Niederstätter, Burkhard Berger, Reinhard Lentner, Walther Parson
Noninvasive sampling, for example, of droppings or feathers, is a promising approach for molecular genetic studies on endangered and elusive animal species. Yet, such specimens are known for containing only minute amounts of DNA, resulting in lower typing success rates relative to analyses on fresh tissues such as muscle or blood. Furthermore, artefactual signals as well as contamination are more likely to occur when DNA is limited. To increase the reliability of DNA typing from noninvasive samples, optimized DNA extraction and polymerase chain reaction protocols were developed, taking advantage of developments in the forensic field aiming at successful molecular genetic analysis of DNA templates being low in quality and quantity...
April 2018: Ecology and Evolution
https://www.readbyqxmd.com/read/29720704/diagnostic-value-of-highly-sensitive-chimerism-analysis-after-allogeneic-stem-cell-transplantation
#15
Lea Sellmann, Kim Rabe, Ivonne Bünting, Elke Dammann, Gudrun Göhring, Arnold Ganser, Michael Stadler, Eva M Weissinger, Lothar Hambach
Conventional analysis of host chimerism (HC) frequently fails to detect relapse before its clinical manifestation in patients with hematological malignancies after allogeneic stem cell transplantation (allo-SCT). Quantitative PCR (qPCR)-based highly-sensitive chimerism analysis extends the detection limit of conventional (short tandem repeats-based) chimerism analysis from 1 to 0.01% host cells in whole blood. To date, the diagnostic value of highly-sensitive chimerism analysis is hardly defined. Here, we applied qPCR-based chimerism analysis to 901 blood samples of 71 out-patients with hematological malignancies after allo-SCT...
May 2, 2018: Bone Marrow Transplantation
https://www.readbyqxmd.com/read/29713857/case-of-successful-ivf-treatment-of-an-oligospermic-male-with-46-xx-46-xy-chimerism
#16
R J Laursen, B Alsbjerg, I Vogel, C H Gravholt, H Elbaek, D L Lildballe, P Humaidan, E M Vestergaard
INTRODUCTION: We present a case of an infertile male with 46,XX/46,XYchimerism fathering a child after ICSI procedure. METHODS: Conventional cytogenetic analysis on chromosomes, derived from lymphocytes, using standard Q-banding procedures with a 450-550-band resolution and short-tandem-repeat analysis of 14 loci. RESULTS: Analysis of 20 metaphases from lymphocytes indicated that the proband was a karyotypic mosaic with an almost equal distribution between male and female cell lines...
April 30, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29707674/microsatellite-genotyping-of-clinical-candida-parapsilosis-isolates
#17
Hamid Badali, Sassan Rezaie, Jacques F Meis, Setareh Agha Kuchak Afshari, Mona Modiri, Ferry Hagen, Maryam Moazeni, Rasoul Mohammadi, Sadegh Khodavaisy
Background and Purpose: Candida parapsilosis is a predominant species found in nosocomial infection, particularly in hospitalized patients. The molecular epidemiology of the clinical strains of this species has not been well studied. The present study was performed with the aim of investigating the microsatellite genotyping of Candida parapsilosis among the Iranian clinical isolates. Materials and Methods: This study was conducted on 81 independent clinical C. parapsilosis isolates that were genotyped by using a panel of six microsatellite markers...
December 2017: Advances in Medical Mycology (Iran)
https://www.readbyqxmd.com/read/29704302/familial-autosomal-dominant-severe-ankyloglossia-with-tooth-abnormalities
#18
Anaëlle Lenormand, Roman Khonsari, Pierre Corre, Jean Philippe Perrin, Cécile Boscher, Mathilde Nizon, Olivier Pichon, Albert David, Cedric Le Caignec, Helios Bertin, Bertrand Isidor
Ankyloglossia is a congenital oral anomaly characterized by the presence of a hypertrophic and short lingual frenulum. Mutations in the gene encoding the transcription factor TBX22 have been involved in isolated ankyloglossia and X-linked cleft palate. The knockout of Lgr5 in mice results in ankyloglossia. Here, we report a five-generation family including patients with severe ankyloglossia and missing lower central incisors. Two members of this family also exhibited congenital anorectal malformations. In this report, male-to-male transmission was in favor of an autosomal dominant inheritance, which allowed us to exclude the X-linked TBX22 gene...
April 28, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29704198/extracellular-galectin-3-induces-accelerated-oligodendroglial-differentiation-through-changes-in-signaling-pathways-and-cytoskeleton-dynamics
#19
Laura Thomas, Laura Andrea Pasquini
Galectin-3 (Gal-3) is a chimeric protein structurally composed of unusual tandem repeats of proline and short glycine-rich segments fused onto a carbohydrate recognition domain. Our studies have previously demonstrated that Gal-3 drives oligodendrocyte (OLG) differentiation to control myelin integrity and function. The cytoskeleton plays a key role in OLG maturation: the initial stage of OLG process extension requires dynamic actin filament assembly, while subsequent myelin wrapping coincides with the upregulation of actin disassembly proteins which are dependent on myelin basic protein (MPB) expression...
April 27, 2018: Molecular Neurobiology
https://www.readbyqxmd.com/read/29702330/stutter-analysis-of-complex-str-mps-data
#20
Søren B Vilsen, Torben Tvedebrink, Poul Svante Eriksen, Claus Bøsting, Christian Hussing, Helle Smidt Mogensen, Niels Morling
Stutters are common and well documented artefacts of amplification of short tandem repeat (STR) regions when using polymerase chain reaction (PCR) occurring as strands one or more motifs shorter or longer than the parental allele. Understanding the mechanism and rate by which stutters are created is especially important when the samples contain small amounts of DNA or DNA from multiple contributors. It has been shown that there is a linear relationship between the longest uninterrupted stretch (LUS) and the stutter ratio...
April 20, 2018: Forensic Science International. Genetics
keyword
keyword
51334
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"