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Journal articles on the topic 'Alu polymorphism'

Author: Grafiati

Published: 4 June 2025

Last updated: 15 July 2025

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1

Al-Hamodi, Zaid, Riyadh Saif-Ali, Ikram S. Ismail, Khaled A. Ahmed, and Sekaran Muniandy. "Effect of Plasminogen Activator Inhibitor-1 and Tissue Plasminogen Activator Polymorphisms on Susceptibility to Type 2 Diabetes in Malaysian Subjects." Journal of Biomedicine and Biotechnology 2012 (2012): 1–6. http://dx.doi.org/10.1155/2012/234937.

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Elevated activity of plasminogen activator inhibitor-1 (PAI-1) and decreased tissue plasminogen activator (tPA) activity are considered to be important risk factors for type 2 diabetes mellitus (T2DM) and metabolic syndrome (MetS). The aim of this study was to investigate the association of the PAI-1 4G/5G and tPA Alu-repeat I/D polymorphisms with T2DM in Malaysian subjects. Serum insulin, coronary risk panel, plasma glucose, and PAI-1 4G/5G and tPA Alu-repeat I/D polymorphisms were studied in 303 T2DM subjects (227 with MetS and 76 without MetS) and 131 normal subjects without diabetes and Me

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2

Ladenvall, Per, Ulrika Wall, Sverker Jern, and Christina Jern. "Identification of Eight Novel Single-Nucleotide Polymorphisms at Human Tissue-type Plasminogen Activator (t-PA) Locus: Association with Vascular t-PA Release In Vivo." Thrombosis and Haemostasis 84, no. 08 (2000): 150–55. http://dx.doi.org/10.1055/s-0037-1613990.

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SummaryRecently, we reported that an Alu insertion polymorphism of the tissue-type plasminogen activator (t-PA) gene is associated with vascular t-PA release rates in man. In the current study we searched the t-PA gene for putative functional genetic variants in linkage disequilibrium (LD) with this polymorphism. Healthy individuals with different Alu genotypes and contrasting t-PA release rates were studied. Regulatory and coding regions of the t-PA gene were sequenced. Eight singlenucleotide polymorphisms (SNPs) were identified. Three of these were in significant LD with the Alu polymorphism

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3

Zhou, Chen, Xiangman Zou, Xiaosha Wen, and Zifen Guo. "Association of the PROGINS PgR polymorphism with susceptibility to female reproductive cancer: A meta-analysis of 30 studies." PLOS ONE 17, no. 7 (2022): e0271265. http://dx.doi.org/10.1371/journal.pone.0271265.

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Aims The progesterone response of the nuclear progesterone receptor plays an important role in the female reproductive system. Changes in the function of the progesterone receptor gene may increase the risk of reproductive cancer. The present study performed a meta-analysis to examine whether the progesterone receptor gene PROGINS polymorphism was a susceptibility factor for female reproductive cancer. Materials and methods We searched the PubMed, Cochrane Library, Web of Science and EMBASE databases for literature on PROGINS polymorphisms and female reproductive cancer published before Septem

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4

Bernard, Lynn E., and Stephen Wood. "Human chromosome 5 sequence primer amplifies Alu polymorphisms on chromosomes 2 and 17." Genome 36, no. 2 (1993): 302–9. http://dx.doi.org/10.1139/g93-042.

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Members of the Alu family of repetitive elements occur frequently in the human genome and are often polymorphic. Techniques involving Alu element mediated polymerase chain reactions (Alu PCR) allow the isolation of region-specific human DNA fragments from mixed DNA sources. Such fragments are a source of region-specific Alu elements useful for the detection of Alu-related polymorphisms. A clone from human chromosome 5, corresponding to locus D5F40S1, was isolated using Alu PCR differential hybridization. Alu elements within this clone were investigated for the presence of potentially polymorph

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5

Zainab, A. Al-Mazaydeh, R. Yasin Salem, and H. Tahtamouni Lubna. "The implementation of Alu insertion polymorphism as a genetic marker for forensic investigation in a Jordanian population sample." African Journal of Biological Sciences 2, no. 3 (2020): 62–71. https://doi.org/10.33472/AFJBS.2.3.2020.62-71.

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Alu element is one of the most abundant short interspersed nuclear elements (SINE) in the human genome with great forensic potential. The current study focused on the analysis of the utility of Alu insertion polymorphism in forensic DNA typing in a Jordanian population sample (central Jordan). Alu insertions in seven different genetic loci were amplified using Polymerase Chain Reaction (PCR). The frequencies of the Alu insertions were 0.345 for <em>ACE</em>, 0.441 for <em>TPA25</em>, 0.291 for <em>PV92</em>, 0.845 for <em>APO</em>, 0.468 for <em>FXIIIB</em>, 0.727 for <em>HS</em>3.23 and 0.527

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6

Arcot, S. S., A. W. Adamson, J. E. Lamerdin, et al. "Alu fossil relics--distribution and insertion polymorphism." Genome Research 6, no. 11 (1996): 1084–92. http://dx.doi.org/10.1101/gr.6.11.1084.

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7

Pidpala, O. V., and L. L. Lukash. "Distribution of the macaques genus-specific Alu repeat AluMacYa3 in the MGMT gene orthologs of old world monkeys." Faktori eksperimental'noi evolucii organizmiv 32 (September 1, 2023): 148–54. http://dx.doi.org/10.7124/feeo.v32.1552.

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Aim. To follow the distribution and evolution of the macaques genus-specific Alu repeat AluMacYa3 in Cercopithecidae MGMT gene orthologs. Methods. The homology between nucleotide sequences has been determined by the BLAST 2.6.1 program. The results of the search and identification of MGE have been obtained by the CENSOR program. Results. It has been shown on the example of Cercopithecidae MGMT gene orthologs that the genus-specific Alu repeat AluMacYa3 is present not only in the intron sequences of macaques, but also in other representatives of the Old World monkeys and in its evolutionary his

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8

Tyuryupov, M. S., K. S. Shulenin, T. S. Svyoklina, et al. "Genetic predictors of survival and development of MACE in the acute COVID-19 in patients with high cardiovascular risk." Therapist’s Bulletin 63, no. 2 (2024): 9–18. http://dx.doi.org/10.31550/2712-8601-vt-2024-2-2.

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Introduction. Despite the fact that the SARS-CoV-2 virus is highly contagious, the clinical manifestations of the disease caused by it can have significant differences: from a low-symptom course to extremely severe forms with the development of a fatal outcome. It is obvious that the observed polymorphism of the development of infection caused by SARS-CoV-2 is due, among other things, to genetic factors. These include single-nucleotide polymorphisms of genes involved in the stages of the pathogenesis of infection: from the penetration of the virus into target cells, the expression of its RNA t

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9

Sekridova, A. V., A. M. Varizhuk, O. N. Tatarinova, et al. "Conformational polymorphysm of G-rich fragments of DNA ALU-repeats. I. Potential noncanonical structures." Biomeditsinskaya Khimiya 62, no. 5 (2016): 535–43. http://dx.doi.org/10.18097/pbmc20166205535.

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In this paper, we report results of systematic studies of conformational polymorphism of G-rich DNA fragments from Alu repeats. Alu retrotransposones are primate-specific short interspersed elements. Using the Alu sequence from the prooncogen bcl2 intron and the consensus AluSx sequence as representative examples, we determined characteristic Alu sites that are capable of adopting G-quadruplex (GQ) conformations (i.e., potential quadruplex sites – PQSAlu), and demonstrated by bioinformatics methods that those sites are Alu-specific in the human genome. Genomic frequencies of PQSAlu were assess

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10

Al-Mamoori, Ali Shakir Obeed, and Mona N. Al-Terehi. "The Efficiency of the Alu Insertion Sequence in Discrimination Among some Individuals." JOURNAL OF UNIVERSITY OF BABYLON for Pure and Applied Sciences 32, no. 2 (2024): 62–79. http://dx.doi.org/10.29196/jubpas.v32i2.5267.

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Background: The Alu element is a widely distributed short interspersed nuclear element (SINE) in the human genome and has important applications in forensic science. The current study focused on assessing the effectiveness of Alu insertion polymorphism in forensic DNA profiling to identifying samples of some individuals living in the Babylon Governorate. Materials and methods: DNA was extracted From frozen blood samples (60) individuals were collected from Babylon - Al-Hilla Governorate from 8/8/2022 until 8/9/2022. Results: purified then a PCR technique Alu insertions were A(2q21.1)(111-115bp

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11

Futreal, P. A., J. C. Barrett, and R. W. Wiseman. "An Alu polymorphism intragenic to the TP53 gene." Nucleic Acids Research 19, no. 24 (1991): 6977. http://dx.doi.org/10.1093/nar/19.24.6977.

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12

Romano, Andrea, Bert Delvoux, Dagmar-Christiane Fischer, and Patrick Groothuis. "The PROGINS polymorphism of the human progesterone receptor diminishes the response to progesterone." Journal of Molecular Endocrinology 38, no. 2 (2007): 331–50. http://dx.doi.org/10.1677/jme.1.02170.

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The human progesterone receptor (PR) is a ligand-dependent transcription factor and two isoforms, (PRA and PRB), can be distinguished. PROGINS, a PR polymorphic variant, affects PRA and PRB and acts as a risk-modulating factor in several gynaecological disorders. Little is known about the functional consequences of this variant. Here, we characterise the properties of PROGINS with respect to transcription, mRNA maturation, protein activity and proliferation. PROGINS is characterised by a 320 bp PV/HS-1 Alu insertion in intron G and two point mutations, V660L in exon 4 and H770H (silent substit

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13

Valle-Garay, Eulalia, Angel H. Montes, Jose R. Corte, Alvaro Meana, Joshua Fierer, and Victor Asensi. "tPA Alu (I/D) Polymorphism Associates With Bacterial Osteomyelitis." Journal of Infectious Diseases 208, no. 2 (2013): 218–23. http://dx.doi.org/10.1093/infdis/jit158.

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14

Matera, A. G., U. Hellmann, and C. W. Schmid. "A transpositionally and transcriptionally competent Alu subfamily." Molecular and Cellular Biology 10, no. 10 (1990): 5424–32. http://dx.doi.org/10.1128/mcb.10.10.5424-5432.1990.

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DNA base sequence comparisons indicate that a subfamily of recently transposed human Alu repeats are distinguished from most Alu repeats by diagnostic sequence differences. Using an oligonucleotide hybridization probe that incorporates these sequence features, we found that there was an expansion of this Alu subfamily following the divergence of humans and African apes. This oligonucleotide was used to select human genomic clones containing representatives of this subfamily. One representative member of this subfamily was evidently absent from the corresponding chimpanzee locus and was associa

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Matera, A. G., U. Hellmann, and C. W. Schmid. "A transpositionally and transcriptionally competent Alu subfamily." Molecular and Cellular Biology 10, no. 10 (1990): 5424–32. http://dx.doi.org/10.1128/mcb.10.10.5424.

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DNA base sequence comparisons indicate that a subfamily of recently transposed human Alu repeats are distinguished from most Alu repeats by diagnostic sequence differences. Using an oligonucleotide hybridization probe that incorporates these sequence features, we found that there was an expansion of this Alu subfamily following the divergence of humans and African apes. This oligonucleotide was used to select human genomic clones containing representatives of this subfamily. One representative member of this subfamily was evidently absent from the corresponding chimpanzee locus and was associa

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16

Krishnaveni, A., and K. Prabhakaran. "Alu Insertion/Deletion Polymorphism in Four Tribes of South India." International Journal of Human Genetics 15, no. 2 (2015): 81–87. http://dx.doi.org/10.1080/09723757.2015.11886256.

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17

Humphries, M. M., D. M. Sheils, S. A. Jordan, G. J. Farrar, R. Kumar-Singh, and P. Humphries. "Alu polymorphism in the human type I Keratin (KRT14) gene." Human Molecular Genetics 1, no. 6 (1992): 453. http://dx.doi.org/10.1093/hmg/1.6.453.

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18

Sherry, Stephen T., Henry C. Harpending, Mark A. Batzer, and Mark Stoneking. "Alu Evolution in Human Populations: Using the Coalescent to Estimate Effective Population Size." Genetics 147, no. 4 (1997): 1977–82. http://dx.doi.org/10.1093/genetics/147.4.1977.

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Abstract There are estimated to be ~1000 members of the Ya5 Alu subfamily of retroposons in humans. This Subfamily has a distribution restricted to humans, with a few copies in gorillas and chimpanzees. Fifty-seven Ya5 elements were previously cloned from a HeLaderived randomly sheared total genomic library, sequenced, and screened for polymorphism in a panel of 120 unrelated humans. Forty-four of the 57 cloned Alu repeats were monomorphic in the sample and 13 Alu repeats were dimorphic for insertion presence/absence. The observed distribution of sample frequencies of the 13 dimorphic elements

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19

Hedges, D. J. "Differential Alu Mobilization and Polymorphism Among the Human and Chimpanzee Lineages." Genome Research 14, no. 6 (2004): 1068–75. http://dx.doi.org/10.1101/gr.2530404.

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20

Xu, Gangfeng, Lesa Nelson, Peter O'Connell, and Ray White. "An Alu polymorphism intragenic to the neurofibromatosis type 1 gene (NF1)." Nucleic Acids Research 19, no. 13 (1991): 3764. http://dx.doi.org/10.1093/nar/19.13.3764.

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21

Khusainova, R. I., N. V. Balinova, I. A. Kutuev, et al. "Analysis of Alu-insertion polymorphism in three subethnic groups of Kalmyks." Russian Journal of Genetics 45, no. 3 (2009): 356–61. http://dx.doi.org/10.1134/s1022795409030156.

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22

SHOJI, Masaru, Shoji TSUTAYA, Jun SHIMADA, Keiya KOJIMA, Takeshi KASAI, and Minoru YASUJIMA. "Lack of Association between Y Chromosome Alu Insertion Polymorphism and Hypertension." Hypertension Research 25, no. 1 (2002): 1–3. http://dx.doi.org/10.1291/hypres.25.1.

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23

Gaudieri, Silvana, Keith M. Giles, Jerzy K. Kulski, and Roger L. Dawkins. "Duplication and Polymorphism in the MHC: Alu Generated Diversity and Polymorphism Within the PERB11 Gene Family." Hereditas 127, no. 1-2 (2004): 37–46. http://dx.doi.org/10.1111/j.1601-5223.1997.00037.x.

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24

Cho, Hee Young, Han Sung Park, Eun Hee Ahn, et al. "Association of Polymorphisms in Plasminogen Activator Inhibitor-1 (PAI-1), Tissue Plasminogen Activator (tPA), and Renin (REN) with Recurrent Pregnancy Loss in Korean Women." Journal of Personalized Medicine 11, no. 12 (2021): 1378. http://dx.doi.org/10.3390/jpm11121378.

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Recurrent pregnancy loss (RPL) is defined as two or more consecutive pregnancy losses prior to 20 weeks of gestational age. Various factors, including immune dysfunction, endocrine disorders, coagulation abnormality, and genetic disorders influence RPL. In particular, plasminogen activator inhibitor-1 (PAI-1), tissue plasminogen activator (tPA), and renin (REN) have important roles in the thrombotic and thrombolytic systems, and abnormal expression of these genes have a reported negative correlation with pregnancy maintenance. Moreover, some polymorphisms of the three genes are related to expr

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25

Rothberg, Paul G., Satish Ponnuru, Darren Baker, et al. "A deletion polymorphism due to alu-alu recombination in intron 2 of the retinoblastoma gene: Association with human gliomas." Molecular Carcinogenesis 19, no. 2 (1997): 69–73. http://dx.doi.org/10.1002/(sici)1098-2744(199707)19:2<69::aid-mc1>3.0.co;2-g.

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26

ISMAILOV, R. I. "GENETIC ASPECTS OF ADVERSE CONSEQUENCES OF PREGNANCY WITH ISTHMIC-CERVINAL INSUFFICIENCY." Scientific digest of association of obstetricians and gynecologists of Ukraine, no. 2(50) (September 22, 2022): 37–43. http://dx.doi.org/10.35278/2664-0767.2(50).2023.274986.

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According to modern ideas, both physiological and pathological processes are the result of complex interactions of genetic and epigenetic factors. Among the publications of recent years, there are no studies on the connection of PROGINS and ESR1 gene polymorphisms or gene methylation with ICI and adverse pregnancy outcomes on its background, which prompted us to conduct research in this direction. The aim of the study. To assess the influence of genetic and eugenetic factors on adverse pregnancy outcomes in isthmic-cervical insufficiency (ICI). Research material and methods. compre

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Horn, G. T., B. Richards, J. J. Merrill, and K. W. Klinger. "Characterization and rapid diagnostic analysis of DNA polymorphisms closely linked to the cystic fibrosis locus." Clinical Chemistry 36, no. 9 (1990): 1614–19. http://dx.doi.org/10.1093/clinchem/36.9.1614.

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Abstract Six genetic polymorphisms, closely linked to the cystic fibrosis gene and useful in clinical linkage analysis, have been characterized and converted to a more rapid form of assay. Sequences flanking the metD (Ban I), metH (Msp I), XV-2c (Taq I), KM.19 (Pst I), MP6d-9 (Msp I), and J3.11 (Msp I) polymorphic restriction sites have been determined and used to design specific polymerase chain reaction (PCR) amplification primers and allele-specific oligonucleotide probes. All six of these polymorphisms were found to involve single-base alterations, and the XV-2c polymorphism was found to l

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de Araújo, João Locke Ferreira, Átila Duque Rossi, Jessica Maciel de Almeida, et al. "Genetic determinants of COVID-19 severity and mortality: ACE1 Alu 287 bp polymorphism and ACE1, ACE2, TMPRSS2 expression in hospitalized patients." PeerJ 13 (January 20, 2025): e18508. https://doi.org/10.7717/peerj.18508.

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Background The angiotensin-converting enzyme 2 (ACE2) and the transmembrane serine protease 2 (TMPRSS2) are central human molecules in the SARS-CoV-2 virus-host interaction. Evidence indicates that ACE1 may influence ACE2 expression. This study aims to determine whether ACE1, ACE2, and TMPRSS2 mRNA expression levels, along with the ACE1 Alu 287 bp polymorphism (rs4646994), contribute to the severity and mortality of COVID-19. Methods Swabs were collected in two Brazilian cities in 2020: Belo Horizonte (n = 134) and Rio de Janeiro (n = 41). A swab of mild patients in Rio de Janeiro who were not

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Lovrečić, Luca, Smiljana Ristić, Nada Starčević-Čizmarević, et al. "PAI and TPA gene polymorphisms in multiple sclerosis." Multiple Sclerosis Journal 14, no. 2 (2007): 243–47. http://dx.doi.org/10.1177/1352458507082603.

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Multiple sclerosis (MS) is an immune-mediated chronic inflammatory demyelinating disease of the central nervous system. It manifests as acute focal inflammatory demyelination and axonal loss with limited remyelination and results in the chronic multifocal sclerotic plaques. Previously published data showed impaired fibrinolysis in MS. Tissue plasminogen activator t-PA is a serine protease that catalyses the activation of plasmin, which mediates the effects of fibrinolytic system. Alu insertion/deletion (I/D) genetic polymorphism in TPA gene in MS patients has not been analysed previously. The

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Kritsiriwuthinan, Kanyanan, Warunee Ngrenngarmlert, Rapatbhorn Patrapuvich, Supaksajee Phuagthong та Kantima Choosang. "Distinct Allelic Diversity of Plasmodium vivax Merozoite Surface Protein 3-Alpha (PvMSP-3α) Gene in Thailand Using PCR-RFLP". Journal of Tropical Medicine 2023 (11 серпня 2023): 1–8. http://dx.doi.org/10.1155/2023/8855171.

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Considering the importance of merozoite surface proteins (MSPs) as vaccine candidates, this study was conducted to investigate the polymorphism and genetic diversity of Plasmodium vivax merozoite surface protein 3-alpha (PvMSP-3α) in Thailand. To analyze genetic diversity, 118 blood samples containing P. vivax were collected from four malaria-endemic areas in western and southern Thailand. The DNA was extracted and amplified for the PvMSP-3α gene using nested PCR. The PCR products were genotyped by PCR-RFLP with Hha I and Alu I restriction enzymes. The combination patterns of Hha I and Alu I R

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Mäkelä, Tomi P., Elina Hellsten, Jouni Vesa, Kari Alitalo, and Leena Peltonen. "An Alu variable polyA repeat polymorphism upstream of L-myc at 1p32." Human Molecular Genetics 1, no. 3 (1992): 217. http://dx.doi.org/10.1093/hmg/1.3.217-a.

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K. Kulski, David S. Dunn, Jennie Hu, Jerzy. "Alu polymorphism within the MICB gene and association with HLA-B alleles." Immunogenetics 53, no. 10-11 (2002): 975–79. http://dx.doi.org/10.1007/s00251-001-0409-5.

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Kulski, Jerzy, David Dunn, Jennie Hui, et al. "Alu polymorphism within the MICB gene and association with HLA-B alleles." Immunogenetics 54, no. 5 (2002): 365. http://dx.doi.org/10.1007/s00251-002-0481-5.

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34

Hubacek, Pistulková, Valenta, and Poledne. "Der (TTA)n Repeat-Polymorphismus im HMG-CoA Reduktase-Gen und der Serumcholesterinspiegel." Vasa 28, no. 3 (1999): 169–71. http://dx.doi.org/10.1024/0301-1526.28.3.169.

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Background: Hypercholesterolaemia is one of the main risk factors of atherosclerosis. Both environmental and genetic factors have been implicated in the development of hypercholesterolaemia. The enzyme hydroxymethylglutaryl-coenzyme A (HMG-CoA) reductase plays an important role in cholesterol synthesis. Thus we supposed that polymorphisms in this gene could influence cholesterolaemia. Patients and methods: Using PCR, we measured the (TTA)n repeat polymorphism near the Alu sequence of the gene for HMG-CoA reductase in two groups of children selected from opposite ends of the cholesterolaemia di

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35

Balogh, O., O. Szepes, K. Kovacs, et al. "Interrelationships of growth hormone AluI polymorphism, insulinresistance, milk production and reproductive performance in Holstein-Friesian cos." Veterinární Medicína 53, No. 11 (2008): 604–16. http://dx.doi.org/10.17221/1865-vetmed.

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Healthy multiparous Holstein-Friesian cows (<I>n</I> = 22, parity: 2–4) from a large-scale dairy herd in Hungary were subjected to an intravenous glucose tolerance test 10–15 days after calving. <I>Alu</I>I genotype of growth hormone, several plasma metabolites and metabolic hormones were determined, and current and previous lactation yields were recorded. We also used the Revised Quantitative Insulin Sensitivity Check Index (RQUICKI) and its modified version (RQUICKI<sub>BHB</sub>) for the estimation of peripheral insulin sensitivity. The majority of cows (

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Ghorbani, Saghar, and Mostafa Saadat. "Association between Alu insertion/deletion polymorphism in intron 8 of human tissue plasminogen activator gene (PLAT) and risk of age-related macular degeneration." Scripta Medica 54, no. 3 (2023): 285–88. http://dx.doi.org/10.5937/scriptamed54-45176.

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Background/Aim: Age-related macular degeneration (AMD) is major reason of blindness in human. Plasminogen is converted to plasmin by tissue plasminogen activator protein (PLAT, formerly known as TPA). A polymorphism in intron 8 of PLAT gene has been reported, either with (insertion) or without (deletion) a 311 bp Alu sequence. This polymorphism is associated with plasma levels of glycoprotein t-PA. t-PA is expressed in the retina and is involved in the development of the eye. It can be hypothesised that the PLAT polymorphism may be correlated with AMD. Therefore, the current study was conducte

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Hamdi, Hamdi K., Jacob Reznik, Raquel Castellon, et al. "Alu DNA polymorphism in ACE gene is protective for age-related macular degeneration." Biochemical and Biophysical Research Communications 295, no. 3 (2002): 668–72. http://dx.doi.org/10.1016/s0006-291x(02)00728-3.

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Nesen, A. O., P. S. Semenovykh, K. O. Savicheva, and V. Y. Galchinska. "ACE gene polymorphism and features of kidney disorders in patients with type 2 diabetes mellitus." Ukrainian Therapeutical Journal, no. 1—2 (June 30, 2022): 39–43. http://dx.doi.org/10.30978/utj2022-1-39.

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Objective — to determine the prevalence of the Alu Ins/Del polymorphism of the angiotensin‑converting enzyme (ACE) gene in patients with type 2 diabetes mellitus (DM 2) with nephropathy and to identify possible associative relationship between the course of the disease and the genetic profile of the examined subjects. Materials and methods. Examinations involved 73 patients with diabetic nephropathy (DN), treated in the hospital of L. T. Mala Therapy National Institute. The control group consisted of 19 healthy individuals. After the initial examination and depending on the polymorphic v

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Sridhar, Ramachandran. "Are the Available DNA Sequence Alignments and Search Tools Reliable for Alu Research?" Journal of Progressive Research in Biology 1, no. 1 (2015): 17–20. https://doi.org/10.5281/zenodo.3970563.

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The results of most bioinformatics and microbiology research studies that use SINEs depend entirely on the mechanism used to detect and count these element instances in the genome. Hence, the reliability and accuracy of the DNA sequence alignment and search tool is vital for genetic researches. This research report presents the findings from testing the reliability of some popular DNA Sequence alignment and search (SA&S) tools using a test/known genomic sequence. The findings reveal the need for novel tool design.

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Nidhi, Sharma, Kaushik Ruchika, Millo Tabin, and Behera Chittaranjan. "Analyzing Maternal Inheritance of Mitochondrial DNA using PCR-RFLP." Journal of Forensic Science and Research 9, no. 1 (2025): 054–58. https://doi.org/10.29328/journal.jfsr.1001081.

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Background & objectives: Mitochondrial DNA (mtDNA) contains valuable genetic information and plays a crucial role in missing person investigations, mass disasters, and forensic cases involving limited or degraded biological material. mtDNA is maternally inherited, with a highly variable control region divided into three hypervariable regions are generally used for forensic investigation. This study aimed to evaluate maternal inheritance patterns of mtDNA using PCR-RFLP techniques to confirm maternal relatedness. Method: The study was designed after prior permission from the institute’s eth

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Abu-Madi, M. A., S. N. Mohd-Zain, J. W. Lewis, and A. P. Reid. "Genomic variability within laboratory and wild isolates of the trichostrongyle mouse nematode Heligmosomoides polygyrus." Journal of Helminthology 74, no. 3 (2000): 195–201. http://dx.doi.org/10.1017/s0022149x00700903.

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AbstractPCR-RFLP techniques have been used to characterize wild and laboratory isolates of the trichostrongyle nematode Heligmosomoides polygyrus from the wood mouse Apodemus sylvaticus and the laboratory mouse Mus musculus respectively. Both isolates can be distinguished by eight endonuclease digestions of the ITS region of the rDNA repeat namely, Alu I, Dde I, Hpa II, Hae III, Hinf I, Hha I, Pvu II and Sal I. In two of the digests, Hinf I and Rsa I, a minor polymorphism was observed in the wild isolate of H. polygyrus which has been cultured in laboratory-bred A. sylvaticus for several gener

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Nesen, Andriy, Polina Semenovykh, Kateryna Savicheva, Valentina Galchinskaya, and Vladimir Chernyshov. "COPEPTIN LEVEL IN PATIENTS WITH DIABETIC NEPHROPATHY WITH ACE GENE POLYMORPHISM." JOURNAL OF THE NATIONAL ACADEMY OF MEDICAL SCIENCES OF UKRAINE, no. 3 2022 (October 30, 2022): 466–78. http://dx.doi.org/10.37621/jnamsu-2022-3-5.

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Aim of the study was to determine the copeptin level in the blood serum of patients with type 2 diabetes mellitus (T2DM) depending on the kidney’s function and accounting for the Alu Ins/Del (rs4646994) polymorphism of the angiotensin-converting enzyme (ACE) gene. Materials and methods: 146 patients with T2DM complicated by diabetic nephropathy (DN) were examined. Patients were divided into 4 groups according to the chronic kidney disease stage. Control group – 30 healthy subjects. Serum levels of copeptin and insulin were determined by ELISA using appropriate kits in accordance with the manuf

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Hobbs, H. H., M. A. Lehrman, T. Yamamoto, and D. W. Russell. "Polymorphism and evolution of Alu sequences in the human low density lipoprotein receptor gene." Proceedings of the National Academy of Sciences 82, no. 22 (1985): 7651–55. http://dx.doi.org/10.1073/pnas.82.22.7651.

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Zucman-Rossi, Jessica, Mark A. Batzer, Mark Stoneking, Olivier Delattre, and Gilles Thomas. "Interethnic polymorphism of EWS intron 6: genome plasticity mediated by Alu retroposition and recombination." Human Genetics 99, no. 3 (1997): 357–63. http://dx.doi.org/10.1007/s004390050372.

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Kass, David H., Nicole Jamison, Melanie M. Mayberry, and Eillen Tecle. "Identification of a unique Alu-based polymorphism and its use in human population studies." Gene 390, no. 1-2 (2007): 146–52. http://dx.doi.org/10.1016/j.gene.2006.07.035.

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Zamroni, Achmad, Suwarso Suwarso, and Ainun Mukhlis. "BIOLOGI REPRODUKSI DAN GENETIK POPULASI IKAN KEMBUNG (Rastrelliger brachysoma, FAMILI SCOMBRIDAE) DI PANTAI UTARAJAWA." Jurnal Penelitian Perikanan Indonesia 14, no. 2 (2017): 215. http://dx.doi.org/10.15578/jppi.14.2.2008.215-226.

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Biologi reproduksi ikan dan genetik populasi merupakan hal yang penting dalam manajemen perikanan. Penelitian tentang ikan kembung (Rastrelliger brachysoma) dilakukan berdasarkan pada pengamatan secara visual terhadap gonad dan mengukur indeks gonad. Contoh genetik ikan kembung (Rastrelliger brachysoma) diperoleh dari 5 lokasi penangkapan, yaitu perairan utara Jakarta, Eretan Wetan (Indramayu), Pekalongan, Rembang, dan Pasuruan (Selat Madura). Analisis restriction fragment length polymorphism mitochondria-DNA ikan contoh menggunakan 5 jenis enzim restriksi yaitu Alu I, Hae III, Nde II, Taq I,

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Lovell, Alan D., Vania Yotova, Fengxia Xiao, Mark A. Batzer, and Damian Labuda. "Polymorphisms within a polymorphism: SNPs in and around a polymorphic Alu insertion in intron 44 of the human dystrophin gene." Journal of Human Genetics 49, no. 5 (2004): 269–72. http://dx.doi.org/10.1007/s10038-004-0138-3.

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Yamamoto, Naoki, Nao Nishida, Rain Yamamoto, et al. "Angiotensin–Converting Enzyme (ACE) 1 Gene Polymorphism and Phenotypic Expression of COVID-19 Symptoms." Genes 12, no. 10 (2021): 1572. http://dx.doi.org/10.3390/genes12101572.

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The renin–angiotensin–aldosterone system (RAAS) appears to play an important role in SARS-CoV-2 infection. Polymorphisms within the genes that control this enzymatic system are candidates for elucidating the pathogenesis of COVID-19, since COVID-19 is not only a pulmonary disease but also affects many organs and systems throughout the body in multiple ways. Most striking is the fact that ACE2, one of the major components of the RAAS, is a prerequisite for SARS-COV-2 infection. Recently, we and other groups reported an association between a polymorphism of the ACE1 gene (a homolog of ACE2) and

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..., Harashawaradhana, Junumai Deori, and Shailendra Kumar. "Genetic Polymorphism of Mitochondrial Genome D-loop Region in Bhotia and Buxa Population of Uttarakhand." Indian Journal of Genetics and Molecular Research 9, no. 1 (2020): 15–22. http://dx.doi.org/10.21088/ijgmr.2319.4782.9120.2.

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To study genomic diversity polymorphic DNA Markers are widely used as most of them are selectively neutral, more ubiquitous than polymorphic protein and enzyme markers. Mitochondrial DNA (mtDNA) characterized high mutation rates caused by lack of protective histones, inefficient DNA repair systems and continuous exposure to mutagenic effects of oxygen radicals. In the present study PCR-RFLP techniques were used to reveal polymorphism of mtDNA D-loop region in Bhotia and Buxa tribes of Uttarakhand. The results showed 3 restriction patterns for HaeIII enzyme for Bhotia community and no restricti

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Cardanha, B. L., and A.P.P. Costa. "Elementos Alu e o seu papel como marcadores moleculares." Vita Scientia 2, no. 1 (2019): 23–28. https://doi.org/10.5281/zenodo.4726305.

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Resumo Os elementos de transposição (TE) foram descobertos por Barbara McClintock em 1940 e eram considerados DNA lixo (junk DNA). Contudo atualmente já se sabe que essas sequências contribuem para a evolução dos organismos e para o aumento da complexidade do genoma, influenciando no número de genes e vias de regulação gênica. Os elementos Alu são elementos de retrotransposição mais comuns em primatas, constituindo aproximadamente 13% do genoma humano. Acredita-se que as primeiras inserções d

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