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2. Endophilin A2 Deficiency Impairs Antibody Production in Humans.

Author

Mehawej, Cybel, Chouery, Eliane, Farah, Roula, Khalil, Alia, Hachem, Setrida El, Corbani, Sandra, Delague, Valerie, Mansour, Issam, Najemdeen, Tarek, Korban, Rima, Faour, Wissam H., Lefranc, Gerard, and Megarbane, Andre

Subjects
IMMUNOLOGIC memory, ANTIBODY formation, GERMINAL centers, B cells, RESPIRATORY infections
Abstract

Endophilin A2, the sole endophilin A family member expressed in hematopoietic cells, regulates various aspects of membrane dynamics, including autophagy and endocytosis. Recent studies in rodents highlight the essential role of endophilin A2 in modulating immune responses. Here we report a homozygous frameshift variant in the SH3GL1 gene (NM_003025.3:c.427delC; p.Leu143Serfs*9), detected by whole exome sequencing in a 14-year-old boy with predominantly antibody deficiency. The patient who is issued from a consanguineous Lebanese family, presents since the age of 18 months with recurrent respiratory tract infections, low peripheral B cell counts and pan-hypogammaglobulinemia, with no history of opportunistic infections. This defect is associated with decrease in switched memory B cells development, impaired in-vitro B cell proliferation and diminished in-vitro IgG production. The detected variant in SH3GL1 segregates with the disease in the family. It significantly decreases the expression of the protein in the patient's peripheral blood compared to healthy controls, thus confirming its pathogenicity. Interestingly, endophilin A2-deficient Sh3gl1−/− mice have been reported to present defects in germinal center B cell responses and in the production of high-affinity IgG. Our data suggests that endophilin A2 deficiency impairs antibody production in humans. Reporting further cases with mutations in SH3GL1 is needed to better characterize the inborn error of immunity linked to this gene. [ABSTRACT FROM AUTHOR]

Published
2024
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8. A global analysis of Y-chromosomal haplotype diversity for 23 STR loci

Author

Purps, Josephine, Siegert, Sabine, Willuweit, Sascha, Nagy, Marion, Alves, Cíntia, Salazar, Renato, Angustia, Sheila M.T., Santos, Lorna H., Anslinger, Katja, Bayer, Birgit, Ayub, Qasim, Wei, Wei, Xue, Yali, Tyler-Smith, Chris, Bafalluy, Miriam Baeta, Martínez-Jarreta, Begoña, Egyed, Balazs, Balitzki, Beate, Tschumi, Sibylle, Ballard, David, Court, Denise Syndercombe, Barrantes, Xinia, Bäßler, Gerhard, Wiest, Tina, Berger, Burkhard, Niederstätter, Harald, Parson, Walther, Davis, Carey, Budowle, Bruce, Burri, Helen, Borer, Urs, Koller, Christoph, Carvalho, Elizeu F., Domingues, Patricia M., Chamoun, Wafaa Takash, Coble, Michael D., Hill, Carolyn R., Corach, Daniel, Caputo, Mariela, D’Amato, Maria E., Davison, Sean, Decorte, Ronny, Larmuseau, Maarten H.D., Ottoni, Claudio, Rickards, Olga, Lu, Di, Jiang, Chengtao, Dobosz, Tadeusz, Jonkisz, Anna, Frank, William E., Furac, Ivana, Gehrig, Christian, Castella, Vincent, Grskovic, Branka, Haas, Cordula, Wobst, Jana, Hadzic, Gavrilo, Drobnic, Katja, Honda, Katsuya, Hou, Yiping, Zhou, Di, Li, Yan, Hu, Shengping, Chen, Shenglan, Immel, Uta-Dorothee, Lessig, Rüdiger, Jakovski, Zlatko, Ilievska, Tanja, Klann, Anja E., García, Cristina Cano, de Knijff, Peter, Kraaijenbrink, Thirsa, Kondili, Aikaterini, Miniati, Penelope, Vouropoulou, Maria, Kovacevic, Lejla, Marjanovic, Damir, Lindner, Iris, Mansour, Issam, Al-Azem, Mouayyad, Andari, Ansar El, Marino, Miguel, Furfuro, Sandra, Locarno, Laura, Martín, Pablo, Luque, Gracia M., Alonso, Antonio, Miranda, Luís Souto, Moreira, Helena, Mizuno, Natsuko, Iwashima, Yasuki, Neto, Rodrigo S. Moura, Nogueira, Tatiana L.S., Silva, Rosane, Nastainczyk-Wulf, Marina, Edelmann, Jeanett, Kohl, Michael, Nie, Shengjie, Wang, Xianping, Cheng, Baowen, Núñez, Carolina, Pancorbo, Marian Martínez de, Olofsson, Jill K., Morling, Niels, Onofri, Valerio, Tagliabracci, Adriano, Pamjav, Horolma, Volgyi, Antonia, Barany, Gusztav, Pawlowski, Ryszard, Maciejewska, Agnieszka, Pelotti, Susi, Pepinski, Witold, Abreu-Glowacka, Monica, Phillips, Christopher, Cárdenas, Jorge, Rey-Gonzalez, Danel, Salas, Antonio, Brisighelli, Francesca, Capelli, Cristian, Toscanini, Ulises, Piccinini, Andrea, Piglionica, Marilidia, Baldassarra, Stefania L., Ploski, Rafal, Konarzewska, Magdalena, Jastrzebska, Emila, Robino, Carlo, Sajantila, Antti, Palo, Jukka U., Guevara, Evelyn, Salvador, Jazelyn, Ungria, Maria Corazon De, Rodriguez, Jae Joseph Russell, Schmidt, Ulrike, Schlauderer, Nicola, Saukko, Pekka, Schneider, Peter M., Sirker, Miriam, Shin, Kyoung-Jin, Oh, Yu Na, Skitsa, Iulia, Ampati, Alexandra, Smith, Tobi-Gail, Calvit, Lina Solis de, Stenzl, Vlastimil, Capal, Thomas, Tillmar, Andreas, Nilsson, Helena, Turrina, Stefania, De Leo, Domenico, Verzeletti, Andrea, Cortellini, Venusia, Wetton, Jon H., Gwynne, Gareth M., Jobling, Mark A., Whittle, Martin R., Sumita, Denilce R., Wolańska-Nowak, Paulina, Yong, Rita Y.Y., Krawczak, Michael, Nothnagel, Michael, and Roewer, Lutz

Published
2014
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9. A mixed DNA profile controversy revisited

Author

Kalafut, Tim, primary, Pugh, Simone, additional, Gill, Peter, additional, Abbas, Sarah, additional, Semaan, Marie, additional, Mansour, Issam, additional, Curran, James, additional, Bright, Jo‐Anne, additional, Hicks, Tacha, additional, Wivell, Richard, additional, and Buckleton, John, additional

Published
2021
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11. Perception of the general public towards the ethical and legal issues surrounding DNA paternity testing in Lebanon

Author

UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Service d'anatomie pathologique, Azoury, Mira, Mrad, Fadia A., Mansour, Issam, Ibrahim, J.-N., Rjeily, Zahia A., Schmit, Grégory, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Service d'anatomie pathologique, Azoury, Mira, Mrad, Fadia A., Mansour, Issam, Ibrahim, J.-N., Rjeily, Zahia A., and Schmit, Grégory

Abstract

BACKGROUND : DNA paternity testing constitutes a challenging area, particularly in Lebanon where there is no existing law to cover the different aspects of the test. This study aimed at exploring the perception of the general public on the various ethical and legal issues surrounding DNA testing, as an initial elementary step towards creating an appropriate legislative framework for paternity testing in Lebanon. METHODS : Data were collected from 300 Lebanese individuals aged 18 years and above through an online self-reported questionnaire. RESULTS : The majority of the respondents insisted on giving their informed consent prior to DNA testing, regardless who is requesting the test. Around three-quarters of participants think that paternity tests should be carried out in accredited laboratories, and almost all subjects (97.3%) highlighted the importance of creating a Law that regulates paternity tests in Lebanon. In terms of results communication and incidental findings disclosure, 66.3% of participants think that the results should be preferably communicated to the concerned person(s), and 64.0% required the presence of a psychologist. The vast majority of respondents prefer to be notified about misattributed paternity (90.3%) with women being significantly less comfortable with the disclosure than men (86.9% vs. 94.4%; P = 0.0492). Nevertheless, only 23% of individuals think that such results could be reported without prior consent to their family for the sake of beneficence. Moreover, both men and women had comparable perception towards reporting a misattributed paternity and the risk of violence against women (90.3% vs. 93.8%; P = 0.28). Finally, 78.7% of participants accepted the use of residual samples in future genetic analyses, but on condition of anonymity. CONCLUSION : Our findings shed the light on Lebanese individuals’ perception towards the protective role of the informed consent and the need for a legislative background in terms of privacy, autonomy, c

Published
2021

12. Genome sequencing unveils mutational landscape of the familial Mediterranean fever: Potential implications of IL33/ST2 signalling

Author

Umar, Meenakshi, primary, Megarbane, Andre, additional, Shan, Jingxuan, additional, Syed, Najeeb, additional, Chouery, Eliane, additional, Aliyev, Elbay, additional, Jithesh, Puthen, additional, Temanni, Ramzi, additional, Mansour, Issam, additional, Chouchane, Lotfi, additional, and Ismail Chouchane, Aouatef, additional

Published
2020
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14. A mixed DNA profile controversy revisited.

Author

Kalafut, Tim, Pugh, Simone, Gill, Peter, Abbas, Sarah, Semaan, Marie, Mansour, Issam, Curran, James, Bright, Jo‐Anne, Hicks, Tacha, Wivell, Richard, and Buckleton, John

Subjects
DNA analysis, ACCOUNTING software, MAGNITUDE (Mathematics), SENSITIVITY & specificity (Statistics)
Abstract

Semaan et al. (J Forensic Res, 2020, 11, 453) discuss a mock case "where eight different individuals [P1 through P8] could not be excluded in a mixed DNA analysis. Even though ... expert DNA mixture analysis software was used." Two of these are the true donors. The LRs reported are incorrect due to the incorrect entry of propositions into LRmix Studio. This forced the software to account for most of the alleles as drop‐in, resulting in LRs 60–70 orders of magnitude larger than expected. P1, P2, P4, P5, and P8 can be manually excluded using peak heights. This has relevance when using LRmix which does not use peak heights. We extend the work using the same two reference genotypes who were the true contributors as Semaan et al. (J Forensic Res, 2020, 11, 453). We simulate three two‐donor mixtures with peak heights using these two genotypes and analyze using STRmix™. For the simulated 1:1 mixture, one of the non‐donors' LRs supported him being a contributor when no conditioning was used. When considered in combination with any other potential donors (i.e., with conditioning), this non‐donor was correctly eliminated. For the 3:1 mixture, all results correctly supported that the non‐donors were not contributors. The low‐template 4:1 mixture LRs with no conditioning showed support for all eight profiles as donors. However, the results from pair‐wise conditioning showed that only the two ground truth donors had LRs supporting that they were contributors to the mixture. We recommend the use of peak heights and conditioning profiles, as this allows better sensitivity and specificity even when the persons share many alleles. [ABSTRACT FROM AUTHOR]

Published
2022
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20. Autosomal short tandem repeat variations and population genetic data on 23 systems in seven major subpopulations from Lebanon.

Author

Khazzouh, Mira, Mansour, Issam, and El Andari, Ansar

Subjects
*SHORT tandem repeat analysis, *GENE frequency, *DNA fingerprinting, *LEBANESE, *NUCLEIC acid isolation methods, *HARDY-Weinberg formula
Abstract

Population allele frequency is an indicator of population genetic diversity and plays significant roles in DNA profiling interpretation in human identification, kinship, and forensic testing. The Lebanese population is a mosaic of 18 religious communities with high rates of consanguinity and endogamy. Allele frequencies for 23 STR loci were estimated and analyzed in the seven major Lebanese religious subcommunities (Muslims Shiaa, Sunni, and Druze, and Christians Orthodox, Maronite, and Catholics), to assess possible significant differences among their STR allele frequencies. [ABSTRACT FROM AUTHOR]

Published
2019
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21. Genetic variations and population data on five supplementary STR markers in Lebanon.

Author

El Andari, Ansar, Mourad, Lama, and Mansour, Issam

Subjects
HUMAN genetic variation, SHORT tandem repeat analysis, BIOLOGICAL tags, GENE frequency, LEBANESE, DNA fingerprinting
Abstract

Population representative short tandem repeat (STR) allele frequencies are crucial for proper probabilistic interpretation of DNA forensic evidence. STR allele frequencies also provide information about the genetic diversity of a given population. The Lebanese population is characterized by the presence of more than 18 religious communities that have high recorded rates of endogamous and consanguineous marriages, where the choice of marriages is mainly influenced by their respective geographical distributions and religious affiliation. These factors could have led to an increase in complex DNA cases, whereby high numbers of STR markers are needed to help clear the case. Allele frequencies for 23 STR loci in the Lebanese population were recently estimated and published. The present study aims at estimating the STR allele frequencies for five supplementary STRs, namely, the LPL, F13B, FESFPS, F13A01, and Penta C STR markers, which are mainly used to resolve complex kinship investigations. A DNA database representative of the Lebanese population that comprises 505 Lebanese unrelated individuals was used to amplify the five STR systems, using the CS7 kit released by Promega. The allele frequencies for these STR systems were estimated, and a significant departure from the Hardy–Weinberg equilibrium was detected after Bonferroni correction for multiple tests at locus LPL, F13A01, and Penta C. The newly added systems appeared to have variation in their discriminative power among Lebanese individuals. Penta C showed the highest power of discrimination, whereas FESFPS showed the lowest power of discrimination. The estimated frequencies and population data could provide local DNA relationship testing laboratories with additional tools that help resolve complex DNA cases. [ABSTRACT FROM AUTHOR]

Published
2019
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24. Allogenic bone marrow transplantation: not a treatment yet for familial Mediterranean fever

Author

Touitou, Isabelle, primary, Ben-Chetrit, Eldad, additional, Gershoni-Baruch, Ruth, additional, Grateau, Gilles, additional, Kastner, Daniel L., additional, Kone-Paut, Isabelle, additional, Livneh, Avi, additional, Manna, Raffaele, additional, Mansour, Issam, additional, Ozdogan, Huri, additional, Ozen, Seza, additional, Sarkisian, Tamara, additional, Tunca, Mehmet, additional, and Yalcinkaya, Fatos, additional

Published
2003
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25. Familial Mediterranean Fever: association of elevated IgD plasma levels with specific MEFV mutations

Author

Medlej-Hashim, Myrna, primary, Petit, Isabelle, additional, Adib, Salim, additional, Chouery, Eliane, additional, Salem, Nabiha, additional, Delague, Valérie, additional, Rawashdeh, Mohammed, additional, Mansour, Issam, additional, Lefranc, Gérard, additional, Naman, Roger, additional, Loiselet, Jacques, additional, Lecron, Jean-Claude, additional, Serre, Jean-Louis, additional, and Mégarbané, André, additional

Published
2001
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26. Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations

Author

Mansour, Issam, primary, Delague, Valérie, additional, Cazeneuve, Cécile, additional, Dodé, Catherine, additional, Chouery, Eliane, additional, Pêcheux, Christophe, additional, Medlej-Hashim, Myrna, additional, Salem, Nabiha, additional, ElZein, Loubna, additional, Levan-Petit, Isabelle, additional, Lefranc, Gérard, additional, Goossens, Michel, additional, Delpech, Marc, additional, Amselem, Serge, additional, Loiselet, Jacques, additional, Grateau, Gilles, additional, Mégarbane, André, additional, and Naman, Roger, additional

Published
2001
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27. Genetic screening of fourteen mutations in Jordanian familial Mediterranean fever patients Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation in Brief #310 (1999) Online http://journals.wiley.com/1059-7794/pdf/mutation/310.pdf

Author

Medlej-Hashim, Myrna, primary, Rawashdeh, Mohammed, additional, Chouery, Eliane, additional, Mansour, Issam, additional, Delague, Valérie, additional, Lefranc, Gérard, additional, Naman, Roger, additional, Loiselet, Jacques, additional, and Mégarbané, André, additional

Published
2000
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35. A global analysis of Y-chromosomal haplotype diversity for 23 STR loci

Author

Thomas Capal, Marian M. de Pancorbo, Birgit Bayer, Sheila M.T. Angustia, Francesca Brisighelli, Andrea Piccinini, Lutz Roewer, Yali Xue, Aikaterini Kondili, Alexandra Ampati, Katja Anslinger, Mouayyad Al-Azem, Witold Pepinski, Harald Niederstätter, Jae Joseph Russell B. Rodriguez, Katja Drobnič, Denise Syndercombe Court, Jana Wobst, David Ballard, Danel Rey-González, Marina Nastainczyk-Wulf, Christopher Phillips, Magdalena Konarzewska, Evelyn K. Guevara, Jill K. Olofsson, Maria Eugenia D’Amato, Natsuko Mizuno, Ansar El Andari, Yiping Hou, G.M. Luque, Carolyn R. Hill, Antti Sajantila, Cordula Haas, Tobi Gail Smith, Christian Gehrig, Andreas O. Tillmar, Marilidia Piglionica, Anja E. Klann, M. Sirker, Jazelyn M. Salvador, Jukka U. Palo, Rita Y.Y. Yong, Antonio Alonso, Xinia Barrantes, Bruce Budowle, Helen Burri, Xianping Wang, Baowen Cheng, Paulina Wolańska-Nowak, Peter de Knijff, Renato Salazar, Thirsa Kraaijenbrink, Shenglan Chen, Susi Pelotti, Tatiana Lúcia Santos Nogueira, Mark A. Jobling, Iulia Skitsa, Issam Mansour, Jeanett Edelmann, Urs V. Borer, Stefania Lonero Baldassarra, Maria Corazon A. De Ungria, Di Zhou, William E. Frank, Jon H. Wetton, Begoña Martínez-Jarreta, Sheng-Ping Hu, Marion Nagy, Andrea Verzeletti, Rodrigo Soares de Moura Neto, Martin R. Whittle, Anna Jonkisz, Ryszard Pawłowski, Cristian Capelli, Yu Na Oh, Emila Jastrzebska, Helena Nilsson, Agnieszka Maciejewska, M. Kohl, Cristina Cano García, Miguel Marino, Michael D. Coble, Elizeu Fagundes de Carvalho, Gareth M. Gwynne, Michael Nothnagel, Chengtao Jiang, Tadeusz Dobosz, Gavrilo Hadzic, Burkhard Berger, Sascha Willuweit, Branka Grskovic, Katsuya Honda, Tanja Ilievska, Rüdiger Lessig, Zlatko Jakovski, Antonio Salas, Balázs Egyed, Laura Locarno, Christoph Koller, Helena Moreira, Sibylle Tschumi, Carolina Núñez, Luís Souto Miranda, Nicola Schlauderer, Patrícia Domingues, Yasuki Iwashima, Di Lu, V. Cortellini, Antónia Völgyi, Monica Abreu-Głowacka, Mariela Caputo, Maarten Larmuseau, Peter M. Schneider, Wafaa Takash Chamoun, Gerhard Bäßler, Pekka Saukko, Cíntia Alves, Lejla Kovacevic, Maria Vouropoulou, Walther Parson, Stefania Turrina, Chris Tyler-Smith, Lina Solis De Calvit, D.R. Sumita, Qasim Ayub, T. Wiest, Iris Lindner, Jorge Cárdenas, Kyoung Jin Shin, Daniel Corach, Claudio Ottoni, Carlo Robino, Sabine Siegert, Ivana Furač, Miriam Baeta Bafalluy, Uta Dorothee Immel, Domenico De Leo, Ronny Decorte, Sandra Furfuro, Niels Morling, Valerio Onofri, Adriano Tagliabracci, Rosane Silva, Beate Balitzki, Ulises Toscanini, Olga Rickards, Michael Krawczak, Sean Davison, Ulrike Schmidt, Wei Wei, Pablo Martín, Vincent Castella, Yan Li, P. Miniati, Rafał Płoski, Gusztáv Bárány, Vlastimil Stenzl, Shengjie Nie, Horolma Pamjav, Carey Davis, Josephine Purps, Lorna H. Santos, Damir Marjanović, Hjelt Institute (-2014), Forensic Medicine, PaleOmics Laboratory, Purps, Josephine, Siegert, Sabine, Willuweit, Sascha, Nagy, Marion, Alves, Cíntia, Salazar, Renato, Angustia, Sheila M.T., Santos, Lorna H., Anslinger, Katja, Bayer, Birgit, Ayub, Qasim, Wei, Wei, Xue, Yali, Tyler-Smith, Chri, Bafalluy, Miriam Baeta, Martínez-Jarreta, Begoña, Egyed, Balaz, Balitzki, Beate, Tschumi, Sibylle, Ballard, David, Court, Denise Syndercombe, Barrantes, Xinia, Bäßler, Gerhard, Wiest, Tina, Berger, Burkhard, Niederstätter, Harald, Parson, Walther, Davis, Carey, Budowle, Bruce, Burri, Helen, Borer, Ur, Koller, Christoph, Carvalho, Elizeu F., Domingues, Patricia M., Chamoun, Wafaa Takash, Coble, Michael D., Hill, Carolyn R., Corach, Daniel, Caputo, Mariela, D'Amato, Maria E., Davison, Sean, Decorte, Ronny, Larmuseau, Maarten H.D., Ottoni, Claudio, Rickards, Olga, Lu, Di, Jiang, Chengtao, Dobosz, Tadeusz, Jonkisz, Anna, Frank, William E., Furac, Ivana, Gehrig, Christian, Castella, Vincent, Grskovic, Branka, Haas, Cordula, Wobst, Jana, Hadzic, Gavrilo, Drobnic, Katja, Honda, Katsuya, Hou, Yiping, Zhou, Di, Li, Yan, Hu, Shengping, Chen, Shenglan, Immel, Uta-Dorothee, Lessig, Rüdiger, Jakovski, Zlatko, Ilievska, Tanja, Klann, Anja E., García, Cristina Cano, De Knijff, Peter, Kraaijenbrink, Thirsa, Kondili, Aikaterini, Miniati, Penelope, Vouropoulou, Maria, Kovacevic, Lejla, Marjanovic, Damir, Lindner, Iri, Mansour, Issam, Al-Azem, Mouayyad, Andari, Ansar El, Marino, Miguel, Furfuro, Sandra, Locarno, Laura, Martín, Pablo, Luque, Gracia M., Alonso, Antonio, Miranda, Luís Souto, Moreira, Helena, Mizuno, Natsuko, Iwashima, Yasuki, Neto, Rodrigo S. Moura, Nogueira, Tatiana L.S., Silva, Rosane, Nastainczyk-Wulf, Marina, Edelmann, Jeanett, Kohl, Michael, Nie, Shengjie, Wang, Xianping, Cheng, Baowen, Núñez, Carolina, Pancorbo, Marian Martínez De, Olofsson, Jill K., Morling, Niel, Onofri, Valerio, Tagliabracci, Adriano, Pamjav, Horolma, Volgyi, Antonia, Barany, Gusztav, Pawlowski, Ryszard, Maciejewska, Agnieszka, Pelotti, Susi, Pepinski, Witold, Abreu-Glowacka, Monica, Phillips, Christopher, Cárdenas, Jorge, Rey-Gonzalez, Danel, Salas, Antonio, Brisighelli, Francesca, Capelli, Cristian, Toscanini, Ulise, Piccinini, Andrea, Piglionica, Marilidia, Baldassarra, Stefania L., Ploski, Rafal, Konarzewska, Magdalena, Jastrzebska, Emila, Robino, Carlo, Sajantila, Antti, Palo, Jukka U., Guevara, Evelyn, Salvador, Jazelyn, Ungria, Maria Corazon De, Rodriguez, Jae Joseph Russell, Schmidt, Ulrike, Schlauderer, Nicola, Saukko, Pekka, Schneider, Peter M., Sirker, Miriam, Shin, Kyoung-Jin, Oh, Yu Na, Skitsa, Iulia, Ampati, Alexandra, Smith, Tobi-Gail, Calvit, Lina Solis De, Stenzl, Vlastimil, Capal, Thoma, Tillmar, Andrea, Nilsson, Helena, Turrina, Stefania, De Leo, Domenico, Verzeletti, Andrea, Cortellini, Venusia, Wetton, Jon H., Gwynne, Gareth M., Jobling, Mark A., Whittle, Martin R., Sumita, Denilce R., Wolańska-Nowak, Paulina, Yong, Rita Y.Y., Krawczak, Michael, Nothnagel, Michael, and Roewer, Lutz

Subjects
Forensic Genetics, Population structure, RECOMBINATION, Forensic Genetic, purl.org/becyt/ford/1 [https], AMOVA, Database, Discriminatory power, Gene diversity, Population structure, Genética y Herencia, 0302 clinical medicine, MARKERS, Haplotype, POPULATION, Allele, Genetics, 0303 health sciences, education.field_of_study, Medicine (all), Gene diversity, 319 Forensic science and other medical sciences, 16. Peace & justice, Gene diversity, Discriminatory power, AMOVA, Population structure, Database, Str loci, Microsatellite Repeat, AMOVA, Database, Discriminatory power, Gene diversity, Population structure, Genetics, Forensic Medicine, ALLELE FREQUENCIES, Discriminatory power, CIENCIAS NATURALES Y EXACTAS, Human, AMOVA, Population, Settore BIO/08 - ANTROPOLOGIA, Biology, Settore BIO/08, SEQUENCE, Article, Pathology and Forensic Medicine, EVENTS, Ciencias Biológicas, Database, 03 medical and health sciences, Genetic, Settore MED/43 - Medicina Legale, Humans, 030216 legal & forensic medicine, education, purl.org/becyt/ford/1.6 [https], Allele frequency, Alleles, 030304 developmental biology, Chromosomes, Human, Y, ta1184, DELETION, Null (mathematics), AZFA REGION, ta3121, Haplotypes, 3111 Biomedicine, SYSTEM, Microsatellite Repeats
Abstract

In a worldwide collaborative effort, 19,630 Y-chromosomes were sampled from 129 different populations in 51 countries. These chromosomes were typed for 23 short-tandem repeat (STR) loci (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385ab, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, GATAH4, DYS481, DYS533, DYS549, DYS570, DYS576, and DYS643) and using the PowerPlex Y23 System (PPY23, Promega Corporation, Madison, WI). Locus-specific allelic spectra of these markers were determined and a consistently high level of allelic diversity was observed. A considerable number of null, duplicate and off-ladder alleles were revealed. Standard single-locus and haplotype-based parameters were calculated and compared between subsets of Y-STR markers established for forensic casework. The PPY23 marker set provides substantially stronger discriminatory power than other available kits but at the same time reveals the same general patterns of population structure as other marker sets. A strong correlation was observed between the number of Y-STRs included in a marker set and some of the forensic parameters under study. Interestingly a weak but consistent trend toward smaller genetic distances resulting from larger numbers of markers became apparent. Fil: Corach, Daniel. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Servicio de Huellas Digitales Genéticas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Caputo, Mariela. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Servicio de Huellas Digitales Genéticas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Marino, Miguel Eduardo. Universidad Nacional de Cuyo. Facultad de Ciencias Médicas. Laboratorio de Analisis de ADN; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Purps, Josephine. Charité-Universitätsmedizin; Alemania Fil: Siegert, Sabine. University of Cologne; Alemania Fil: Willuweit, Sascha. Charité-Universitätsmedizin; Alemania Fil: Nagy, Marion. Charité-Universitätsmedizin; Alemania Fil: Alves, Cíntia. Universidad de Porto; Portugal Fil: Salazar, Renato. Universidad de Porto; Portugal Fil: Angustia, Sheila M. T.. Philippine National Police Crime Laboratory; Filipinas Fil: Santos, Lorna H.. Philippine National Police Crime Laboratory; Filipinas Fil: Anslinger, Katja. Universitat Genzentrum Der Ludwing-maximilians; Alemania Fil: Bayer, Birgit. Universitat Genzentrum Der Ludwing-maximilians; Alemania Fil: Ayub, Qasim. The Wellcome Trust Sanger Institute; Reino Unido Fil: Wei, Wei. The Wellcome Trust Sanger Institute; Reino Unido Fil: Xue, Yali. The Wellcome Trust Sanger Institute; Reino Unido Fil: Tyler Smith, Chris. The Wellcome Trust Sanger Institute; Reino Unido Fil: Baeta Bafalluy, Miriam. Universidad de Zaragoza; España Fil: Martínez Jarreta, Begoña. Universidad de Zaragoza; España Fil: Egyed, Balazs. Eotvos University, Budapest; Argentina Fil: Balitzki, Beate. Universidad de Basilea; Suiza Fil: Tschumi, Sibylle. Universidad de Basilea; Suiza Fil: Ballard, David. King; Reino Unido Fil: Syndercombe Court, Denise. King; Reino Unido Fil: Barrantes, Xinia. Poder Judicial, Forensic Sciences Department; Costa Rica Fil: Bäßler, Gerhard. Landeskriminalamt Baden-Württemberg; Alemania Fil: Berger, Burkhard. Universidad de Innsbruck; Austria Fil: Niederstätter, Haral. Universidad de Innsbruck; Austria Fil: Parson, Walther. Universidad de Innsbruck; Austria. University Park; Estados Unidos Fil: Davis, Carey. Department of Molecular and Medical Genetics; Estados Unidos. Institute of Applied Genetics; Estados Unidos Fil: Furfuro, Sandra. Universidad Nacional de Cuyo. Facultad de Ciencias Médicas. Laboratorio de Análisis de ADN; Argentina Fil: Locarno, Laura. Universidad Nacional de Cuyo. Facultad de Ciencias Médicas. Laboratorio de Análisis de ADN; Argentina

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