Polymorphisms chromosomes human 19 20. Medical search. Frequent questions

Six available single-nucleotide polymorphisms (SNPs) disrupting existing exonic splicing enhancers were identified in RON. (spandidos-publications.com)
Whole genome scan of the 19 autosomes and X chromosome was performed on (C57BL/6J-Sox10 Dom x C3H/HeJ)F2 intercross animals using single nucleotide polymorphisms (SNPs) spaced ~18 cM apart. (jax.org)
The aim of this study was to identify any impact of CYP2A13 single-nucleotide polymorphisms (SNPs) on CYP2A13 expression in human lung. (aspetjournals.org)
To date, more than 20 single-nucleotide polymorphisms (SNPs) have been identified in CYP2A13 (Zhang et al. (aspetjournals.org)
In the present study, we determined the potential impact of selected CYP2A13 SNPs on levels of CYP2A13 expression in human lung. (aspetjournals.org)
All three regions contained smaller areas in which a cluster of single nucleotide polymorphisms (SNPs) showed clearly stronger association signals than surrounding SNPs, allowing us to assign those areas as the most likely location of the disease-associated functional variant. (ox.ac.uk)
Single nucleotide polymorphisms (SNPs) in miRNAs and risk of breast cancer have been evaluated in populations of European or Asian ancestry, but not among women of African ancestry. (cdc.gov)
Six phenotypes were observed as a result of two single nucleotide polymorphisms (SNPs) at amino acid positions 112 and 158. (dovepress.com)
The new study employed computers to scan the entire genomes of all the volunteers and look for small genetic variants known as single-nucleotide polymorphisms, or SNPs. (latimes.com)
Among these single-nucleotide polymorphisms (SNPs), the TCF7L2 rs7903146 (intron 4) shows the strongest association with T2DM. (medscape.com)

In humans, the wide variety of carcinogens and varying degrees of exposure make identifying the predisposing genes difficult, but in a mouse model, such confounding variables can be controlled. (bmj.com)
Identification of the genes predisposing to mouse lung cancer could have considerable implications for diagnosis, treatment, or chemoprevention of lung cancer in humans. (bmj.com)
Conserved transcription factor-binding sites within promoter regions of human RON genes were then searched. (spandidos-publications.com)
[7] All Y-linked genes are expressed and (apart from duplicated genes) hemizygous (present on only one chromosome) except in the cases of aneuploidy such as XYY syndrome or XXYY syndrome . (iiab.me)
The Y chromosomes of humans and other mammals also contain other genes needed for normal sperm production. (iiab.me)
Over time, genes that were beneficial for males and harmful to (or had no effect on) females either developed on the Y chromosome or were acquired through the process of translocation . (iiab.me)
The gene mutated in this disorder lies within a 3.1 Mb interval containing 33 genes on chromosome 16q23.3-24.1 (chr16:83639061 - 86716445, hg19). (molvis.org)
Recently it has been shown that individual genetic polymorphisms in the genes encoding inflammatory cytokines, apolipoprotein E4 and lipoprotein lipase and the like have a major impact on the magnitude of SIRS in patients undergoing CPB (2-4). (peertechzpublications.com)
Polymorphisms in two genes, ASIP and OCA2, may play a shared role in shaping light and dark pigmentation across the globe while SLC24A5, MATP, and TYR have a predominant role in the evolution of light skin in Europeans but not in East Asians. (blogspot.com)
In humans, seven alternatively spliced forms derive from three genes- LMNA , LMNB1 , and LMNB2 . (bmj.com)
But most of those studies examined very limited sets of genetic data, such as variations on the Y chromosome or in mitochondrial DNA, which contains only a dozen genes and passes virtually unchanged from mother to child. (latimes.com)
Genes Chromosomes Cancer 2008(1): 26-33 [ PubMed abstract ]. (lu.se)
Genes Chromosomes Cancer 2007(6): 517-21 [ PubMed abstract ]. (lu.se)
Genes Chromosomes Cancer 2006(6): 583-91 [ PubMed abstract ]. (lu.se)

Nan Fang Yi Ke Da Xue Xue Bao, 2023 Jun 20. (nih.gov)
12(20): e030606, 2023 10 17. (bvsalud.org)

In these studies, upwards of a million single-nucleotide polymorphisms are typed in each individual. (medscape.com)

1 Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U980, Paris, France. (jci.org)
We have various lines of evidence that there was more than one migration," said Dr. Andres Ruiz-Linares, a professor of human genetics at University College London and senior author of a report on the findings that was published Wednesday by the journal Nature. (latimes.com)

The X and Y chromosomes are thought to have evolved from a pair of identical chromosomes, [11] [12] termed autosomes, when an ancestral animal developed an allelic variation, a so-called "sex locus" - simply possessing this allele caused the organism to be male. (iiab.me)
[13] The chromosome with this allele became the Y chromosome, while the other member of the pair became the X chromosome. (iiab.me)

Thus far among the lamins, these have been described only for LMNA , which maps to chromosome 1q21.2 and encodes lamin A and lamin C through alternative splicing. (bmj.com)

Epub 2011 May 20. (medlineplus.gov)
Epub 2015 Apr 19. (cancercentrum.se)

The NHANES program suspended field operations in March 2020 due to the coronavirus disease 2019 (COVID-19) pandemic. (cdc.gov)

This locus would reach statistical significance if the X chromosome had been analyzed the same way as an autosome. (jax.org)
One locus important in embryogenesis, KIT , has been associated with white coat patterns in several mammalian species and piebaldism in humans. (creation.com)
A genome-wide linkage search in family F1 identified a 6.5 Mb locus for this disorder on chromosome 16q23.2-24.1. (molvis.org)
Locus refinement was undertaken with single nucleotide polymorphism (SNP) microarray analysis. (molvis.org)
The single nucleotide polymorphism microarray analysis excluded a shared founder haplotype between the families and refined the locus to 3.1 Mb. (molvis.org)
The higher risk of SLE in women and men with Klinefelter syndrome may be associated with enhanced expression of toll-like receptor 7 (TLR7), a key pathogenic factor in SLE that is encoded on an X chromosome locus. (medscape.com)
Genome-wide single-nucleotide polymorphism analysis in juvenile myelomonocytic leukemia identifies uniparental disomy surrounding the NF1 locus in cases associated with neurofibromatosis but not in cases with mutant RAS or PTPN11. (lu.se)

The resulting recombinase-coated ssDNA filaments can invade the homologous chromosome dsDNA, searching for a complementary sequence (chromosome pairing), which will foster genetic material exchange. (nature.com)
The solution structure of the amino-terminal domain of human DNA polymerase epsilon subunit B is homologous to C-domains of AAA+ proteins. (nih.gov)

A chromosome is a long DNA molecule with part or all of the genetic material of an organism. (wikipedia.org)

[18] This re-estimation of the age of the therian XY system is based on the finding that sequences that are on the X chromosomes of marsupials and eutherian mammals are present on the autosomes of platypus and birds. (iiab.me)

The apolipoprotein E (APOE) gene is located on chromosome 19 and encodes a glycoprotein that is 299 amino acids long. (dovepress.com)

A genome engineering study that studied mice knock-outs has found that c12orf71 has a decreased expression in humans compared to mouse testis, however the absence of the c12orf71 had no effect on mouse fertilization. (wikipedia.org)
BACKGROUNDS: Multiple polymorphisms affecting smoking behavior have been identified through genome-wide association studies. (ox.ac.uk)
With a 30% difference between humans and chimpanzees, the Y chromosome is one of the fastest-evolving parts of the human genome . (iiab.me)
We used a genome-wide single nucleotide polymorphism (SNP) array to study patients with chromosome aneuploidy mosaicism, UPD and one individual with XX/XY chimerism to gain insight into the developmental mechanism and timing of these events. (nih.gov)
We have previously identified several colorectal cancer (CRC)-associated polymorphisms using genome-wide association (GWA) analysis. (ox.ac.uk)
human whole-genome. (scirp.org)
We performed a genetic analysis of chromosome 21 exploiting the genome-wide association study data including 6,406 individuals hospitalized for COVID-19 and 902,088 controls with European genetic ancestry. (cdc.gov)
By performing a whole genome linkage search, we mapped a recessive gene for this disorder to a 6.5 Mb interval on chromosome 16q23.2-24.2. (molvis.org)
In order to trace the origins and migratory patterns that may have led to the genetic isolation and autosomal clustering in some of these communities we analyzed Y-chromosome STR and SNP sample data from 6327 individuals, in addition to whole genome autosomal sample data from 609 individuals, from Mount Lebanon and other surrounding communities. (nature.com)

It contains 20 exons and 19 introns and is located on chromosome 3p21 ( 1 - 3 ), a region frequently altered in certain cancer types ( 4 ). (spandidos-publications.com)

Angiotensin II type 1 receptor gene polymorphisms in humans: physiology and pathophysiology of the genotypes. (medlineplus.gov)
To our knowledge, angiotensin converting enzyme ( ACE ) gene I/D polymorphisms have not yet been investigated in AS patients in Turkish population.This study was conducted in Turkish patients with AS to determine the frequency of I/D polymorphism genotypes of angiotensin converting enzyme gene. (molvis.org)
ACE I/D polymorphism genotypes were determined by using polymerase chain reaction with specific primers. (molvis.org)

Mutations/polymorphisms in the 55 kDa subunit of DNA polymerase epsilon in human colorectal cancer. (nih.gov)

[1] [2] These chromosomes display a complex three-dimensional structure, which plays a significant role in transcriptional regulation . (wikipedia.org)
Gene fusions derived by transcriptional readthrough are driven by segmental duplication in human. (upf.edu)

The database contains polymorphisms of five U.S. ethnic groups (African-Americans, European Americans, Hispanics, Native Americans, and Asian-Americans) as well as the worldwide population. (pearson.com)
What would be the value of knowing the ethnic population differences for Y-STR polymorphisms? (pearson.com)
As a result of our study, angiotensin converting enzyme gene I/D polymorphism DD genotype could be a genetic marker in ankylosing spondylitis in a Turkish study population. (molvis.org)
TCF7L2 was discovered as a type 2 diabetes susceptibility gene after a strong linkage signal was mapped to chromosome 10q in a Mexican-American population. (medscape.com)

Stevens proposed that chromosomes always existed in pairs and that the Y chromosome was the pair of the X chromosome discovered in 1890 by Hermann Henking. (iiab.me)
Most therian mammals have only one pair of sex chromosomes in each cell. (iiab.me)

and §Centers for types caused by plasmid exchanges ( 16 - 19 ). (cdc.gov)

Genetic testing encompasses a broad range of laboratory tests performed to analyze DNA, RNA, chromosomes, proteins, and certain metabolites using biochemical, cytogenetic, or molecular methods or a combination of these methods. (cdc.gov)

4, 5 Four QTLs identified as pulmonary adenoma susceptibility (Pas) loci 1-4 have been mapped, respectively, to mouse chromosomes 6, 17, 19, and 9. (bmj.com)
Genetic polymorphisms in 15q25 and 19q13 loci, cotinine levels, and risk of lung cancer in EPIC. (ox.ac.uk)
Here we obtained a well-resolved polymorphism type of intergenic spacer (IGS) sequence phylogeny of B. burgdorferi sensu stricto clonal complexes (corresponding to the ospC- A and -B groups) is associated by using multilocus sequence typing at housekeeping loci with hematogenous dissemination in patients with early as well as loci under adaptive evolution. (cdc.gov)

[5] In animal cells, chromosomes reach their highest compaction level in anaphase during chromosome segregation . (wikipedia.org)
Special treatment of the X chromosome was utilized in this analysis to account for sex chromosome segregation behavior. (jax.org)

Evidence for the meiotic origin of aneuploidy and UPD was seen in the patterns of recombination visible during analysis with 1-3 crossovers per chromosome. (nih.gov)

Some use the term chromosome in a wider sense, to refer to the individualized portions of chromatin in cells, either visible or not under light microscopy. (wikipedia.org)

In this study we aimed to investigate the effect of ITGA2B (integrin alpha 2b, platelet glycoprotein IIb of IIb/IIIa complex) gene polymorphism on the magnitude of inflammatory response after CPB. (peertechzpublications.com)

The gene is located on the minus strand of chromosome 12 (12p11.23). (wikipedia.org)
The MAPT gene is located within a 952 kb haplotype block on chromosome 17q21.31, which is the result of an inversion polymorphism, leading to two allelic variants, called H1 and H2 haplotypes [ 21 , 22 ]. (biomedcentral.com)

We investigated the effects of single-nucleotide polymorphisms (SNP) previously associated with smoking behavior on (i) circulating cotinine and (ii) lung cancer risk. (ox.ac.uk)
IMPACT: This study is the largest to date investigating the effects of polymorphisms affecting smoking behavior on lung cancer risk using circulating cotinine measures as proxies for recent smoking behavior. (ox.ac.uk)
IC à 95 % : 1,4-5,0) était significativement associé à un risque accru de cancer, et ce risque était même supérieur en présence d'un tabagisme paternel important. (who.int)
Human papillomavirus ( HPV ) infection must be present for cervical cancer to occur. (medscape.com)
Recognition of the etiologic role of human papillomavirus ( HPV ) infection in cervical cancer has led to the recommendation of adding HPV testing to the screening regimen in women 30-65 years of age (see Workup). (medscape.com)
Immunodeficient mice that cannot reject xenotransplanted cells have been shown to be the best living recipient for developing xenograft models of human cancer ( 6 - 8 ). (iiarjournals.org)
However, all these mouse strains display residual immune functions, in particular, natural killer (NK) cells that can inhibit tumor formation and metastatic spread of cancer cells ( 20 , 21 ). (iiarjournals.org)
This improved immunodeficient profile has established NSG mice as the new 'gold standard' for human haematopoietic stem cell ( 23 - 25 ) and cancer research. (iiarjournals.org)
Indeed, NSG mice have been shown to be better recipients than NOD/SCID, nude or other immunodeficient mouse strains for developing and studying various xenograft models of human cancer, such as melanoma ( 20 , 26 , 27 ), leukemia ( 28 ), pancreatic ( 29 ), cervical ( 30 ) and breast cancer ( 31 ). (iiarjournals.org)

The MAPT gene, encoding the microtubule-associated protein tau on chromosome 17q21.31, is result of an inversion polymorphism, leading to two allelic variants (H1 and H2). (biomedcentral.com)

For humans, a maximum of 10 alleles could have made it through unless Noah's sons carried mutations. (creation.com)
Mutations in the MC2 receptor accessory protein (MRAP) are responsible for another estimated 15-20% of cases of FGD. (medscape.com)
Mutations of the PTPN11 gene in therapy-related MDS and AML with rare balanced chromosome translocations. (lu.se)

Among humans, some men have two Xs and a Y ("XXY", see Klinefelter syndrome ), or one X and two Ys (see XYY syndrome ), and some women have three Xs or a single X instead of a double X ("X0", see Turner syndrome ). (iiab.me)
We found that five single nucleotide polymorphisms within TMPRSS2 and near MX1 gene show suggestive associations (P=1x10-5) with severe COVID-19. (cdc.gov)
Supporting a controversial view of how humans might have populated the Western Hemisphere, geneticists have found that groups from Asia traveled over the Bering Strait into North America in at least three separate migrations beginning more than 15,000 years ago - not in a single wave, as has been widely thought. (latimes.com)
Three single nucleotide polymorphism (SNP) sites were detected in two IGRs which permitted separation of the five R. akari isolates from Ukraine SSR from the other eight isolates. (cdc.gov)

Koray Ak, Ergun S, Altınoz H, Uyguner ZO, Tetik S (2016) GG Polymorphism of Platelet ITGA2B Gene Increases the Magnitude of Interleukin-6 Release after Cardiopulmonary Bypass. (peertechzpublications.com)

Souyris et al reported that in both females and males with Klinefelter syndrome, substantial fractions of primary B lymphocytes, monocytes, and plasmacytoid dendritic cells express TLR7 on both X chromosomes, leading to greater immunoglobulin secretion. (medscape.com)
Finally, TCF7L2 polymorphisms have been associated with impaired insulin secretion, glucose production, and glucose tolerance via direct effects on pancreatic islet beta cells. (medscape.com)

CYP2A13 genetic polymorphisms may be associated with interindividual differences in susceptibility to tobacco-related tumorigenesis, because the resultant variations in CYP2A13 expression and metabolic activity can significantly alter the extent of NNK metabolic activation in human lung. (aspetjournals.org)
Human leukocyte antigen B27 ( HLA-B27 ) is the major genetic susceptibility marker in AS. (molvis.org)

c12orf71 gene was determined to be altered (gain of 21 Mb) in the chromosomal region 12p11.21-p13.3 of a male patient with chromosomal aberrations and in a duplication (gain of 411 kb) at chromosome 12p11.23 along with c12orf70, the coding regions of STK38L and ARNTL2 and a portion of PPFIBP1. (wikipedia.org)
In the process, chromosomal fusions occurred in the equidae, causing karyotypes to evolve that range from 66 to 32 chromosomes, whilst preserving the same amount of DNA. (ivis.org)
Repair of mitomycin-C-induced chromosomal aberrations was impaired in RAD51B/Rad51b-c.92delT human and mouse somatic cells in vitro and in explanted mouse bone marrow cells. (nature.com)

This enzyme is detected in all tissues, especially in embryonic tissues and immune cells ( https://www.proteinatlas.org/ ) ( Figures 1B,C ). The full-length human RNase T2 has 256 amino acids (AA) and a predicted size of 29 kD ( Table 1 ). (frontiersin.org)
The evolutionary conservation structure of RNase T2 and distribution of RNASET2 in human tissues and immune cells. (frontiersin.org)
(B) Expressions of RNASET2 in human tissues were analyzed in the Human Protein Atlas database, and the resulting transcript expression values, denoted normalized expression (NX), were calculated for each gene in every sample. (frontiersin.org)

117 autosomal markers and 6 markers on the X chromosome were screened. (jax.org)

Differentiation of mitotic and meiotic origins for aneuploidy and UPD supports existence of selective factors against full trisomy of some chromosomes in the early embryo and provides data for estimation of recurrence and disease mechanisms. (nih.gov)

Also, although there were only two humans, Eve may have carried alleles in her egg cells that differed from those in her body. (creation.com)

The Y chromosome is one of two sex chromosomes ( allosomes ) in mammals, including humans , and many other animals. (iiab.me)

There is limited evidence in humans for the carcinogenicity of welding fumes and gases. (who.int)

Sex-chromosome copy number variations are also implicated in the risk of SLE. (medscape.com)

(A) Amino acid sequence of RNases T2 from human, mouse, rabbit, fruit fly, and classical swine fever virus showing the wide evolutionary conservation of these enzymes. (frontiersin.org)

The 1.5-LOD support interval for Agln3 spans 0 cM - 20 cM. (jax.org)

Ednrb (Sox10m1) at 54 cM on mouse Chromosome 14 showed significant linkage to aganglionosis (LOD=13.8) and total affected gut length (LOD=13.7). (jax.org)
Strong linkage to gut length was detected at 22 cM on mouse Chromosome 5 (LOD=6.31). (jax.org)
Linkage to gut length in females mapped to 48 cM on mouse Chromosome 18 (LOD=3.54). (jax.org)
Suggestive linkage to gut length mapped to 57 cM on mouse Chromosome X (LOD=3.33). (jax.org)

Human leukocyte antigen B27 (HLAB 27) positive patients in particular -mostly those in the subgroup with ankylosing spondylitis- are affected. (molvis.org)
Focusing on chromosome 6p21.3, which is a region of high sequence divergence harboring the human leukocyte antigen (HLA) system, we found that local realignment had little or no impact on SNP calling, but increased sensitivity was observed in INDEL calling for the Stampy + GATK UnifiedGenotyper pipeline. (biomedcentral.com)

She realized that the previous idea of Clarence Erwin McClung, that the X chromosome determines sex, was wrong and that sex determination is, in fact, due to the presence or absence of the Y chromosome. (iiab.me)
Preeclampsia is a heterogeneous vascular disease of the human pregnancy that presents in a previously normotensive woman during the second half of the pregnancy with hypertension and proteinuria, or preeclampsia-associated signs in the absence of proteinuria ( 1 , 2 ). (frontiersin.org)

There was no significant difference in the frequency of genetic polymorphism between the patients and the controls. (peertechzpublications.com)

Recently, NSG mice have been used in an NB xenograft model for studying tumor-infiltrating human lymphocytes in subcutaneous ( s.c. ) tumors of NB cells embedded in Matrigel® ( 32 ). (iiarjournals.org)

Purification, cDNA cloning, and gene mapping of the small subunit of human DNA polymerase epsilon. (nih.gov)

Ding W, Wang F, Fang Q, Zhang M, Chen J, Gu Y. Association between two genetic polymorphisms of the renin-angiotensin-aldosterone system and diabetic nephropathy: a meta-analysis. (medlineplus.gov)

Cellular localization analysis showed that human c12orf71 protein is found in the cytoplasm of the cell. (wikipedia.org)

4, 5 The process involves use of many evenly spaced polymorphic DNA markers to create landmarks across each chromosome. (bmj.com)
Genetic markers on chromosome 15 were excluded due to proximity to the Sox10 mutation. (jax.org)

[4] Before this happens, each chromosome is duplicated ( S phase ), and both copies are joined by a centromere , resulting either in an X-shaped structure (pictured above), if the centromere is located equatorially, or a two-arm structure, if the centromere is located distally. (wikipedia.org)

Anatomy58

Organisms5

Diseases22

Chemicals and Drugs33

Analytical, Diagnostic and Therapeutic Techniques and Equipment34

Psychiatry and Psychology1

Phenomena and Processes168

Disciplines and Occupations4

Anthropology, Education, Sociology and Social Phenomena1

Technology, Industry, Agriculture1

Information Science4

Named Groups2

Health Care8

Geographicals3

SNPs10

Genes14

20232

Million single-nucleotide po1

Genetics2

Allele2

Maps to chromosome1

Epub2

20191

Locus7

Homologous2

Organism1

Autosomes1

Encodes1

Genome9

Exons1

Genotypes3

Colorectal cancer1

Transcriptional2

Population4

Pair2

Plasmid1

Proteins1

Loci3

Segregation2

Recombination1

Microscopy1

Glycoprotein1

Gene is located2

Cancer9

Variants1

Mutations3

Single4

20161

Secretion2

Susceptibility2

Chromosomal3

Tissues3

Autosomal1

Aneuploidy1

Alleles1

Mammals1

Evidence1

Variations1

Amino1

Spans1

Linkage4

Leukocyte antigen2

Absence2

Frequency1

Tumor1

Polymerase1

Angiotensin1

Analysis1

Markers2

Copies1