RESEARCH ACTIVITIES AND INTERESTS
Forensic Genetics
EDUCATION
1989-1995: Degree in Pharmaceutical Sciences, Faculty of Pharmacy of the University of Porto.
1995-1997: Master degree in Applied Human Genetics, Faculty of Sciences of the University of Porto.
MAIN PROFESSIONAL ACTIVITY
Responsible for the Genetic Identification and Parentage Testing Unit in IPATIMUP.
RECENT PUBLICATIONS (since 2000)
International Scientific Journals:
Alves C, Silva F, Gusmão L, Seruca R, Soares P, Reis RM, Amorim A (2000): Extended structural variation of a pentanucleotide repeat in the GSTP1 gene: characterisation in a normal population and in thyroid and gastric tumours. Eur J Hum Genet 8(7): 540-544.
Gusmão L, Sánchez-Diz P, Alves C, Lareu MV, Carracedo A, Amorim A (2000): Genetic diversity of nine STRs in two iberian populations: Galicia and Northern Portugal. Int J Leg Med 114(1/2): 109-113.
Amorim A, Gusmão L, Alves C (2001): STR data (AmpFlSTR Profiler Plus) from north Portugal. Forensic Sci Int 115(1-2): 119-121.
Roewer L, Krawczak M, Willuweit S, Nagy M, Alves C, Amorim A, Anslinger K, Augustin C, Betz A, Bosch E, Cagliá A, Carracedo A, Corach D, Dobosz T, Dupuy BM, Füredi S, Gehrig C, Gusmão L, Henke J, Henke L, Hidding M, Hohoff C, Hoste B, Jobling MA, Kärgel HJ, de Knijff P, Lessig R, Liebeherr E, Lorente M, Martínez-Jarreta B, Nievas P, Nowak M, Parson W, Pascali VL, Penacino G, Ploski R, Rolf B, Sala A, Schmidt U, Schmitt C, Schneider PM, Szibor R, Teifel-Greding J, Kayser M (2001): Online reference database of European Y-chromosomal short tandem repeat (STR) haplotypes. Forensic Sci Int 118(2-3): 106-113.
Alves C, Gusmão L, Amorim A (2001): STR data (AmpFlSTR Profiler Plus and GenePrint CTTv) from Mozambique. Forensic Sci Int 119(1): 146-148.
Rodrigues F, Zeeman AM, Alves C, Sousa MJ, de Steensma HY, Côrte-Real M, Leão C (2001): Construction of a genomic library of the food spoilage yeast Zygosaccharomyces bailii and isolation of the β-isopropylmalate dehydrogenase gene (ZbLEU2). FEMS Yeast Research 1: 67-71.
Trovoada MJ, Alves C, Gusmão L, Abade A, Amorim A, Prata MJ (2001): Evidence for population sub-structuring in São Tomé e Príncipe as inferred from Y-chromosome STR analysis. Ann. Hum. Genet. 65: 271-283.
Gusmão L, Alves C, Amorim A (2001): Molecular characterisation of four human Y-specific microsatellites (DYS434, DYS437, DYS438, DYS439) for population and forensic studies. Ann. Hum. Genet. 65: 285-291.
Alves C, Amorim A, Gusmão L, Pereira L (2001): VWA STR genotyping: further inconsistencies between Perkin Elmer´s and Promega´s kits. Int J Leg Med 115: 97-99.
Gusmão L, Prata MJ, Sánchez-Diz P, Lareu MV, Carracedo A, Alves C, Martins N, Amorim A (2001): STR data for the AmpFlSTR Profiler Plus loci from Macau (China).Forensic Sci Int 123(1): 74-75.
Alves C, Gusmão L, Pereira L, Amorim A (2001): STR data (CD4, CSF1PO, F13A01, FES/FPS, MBPB, TH01, TPOX) from North Portugal. Forensic Sci Int 123(1): 76-77.
Fernandes AT, Brehm A, Alves C, Gusmão L, Amorim A (2002): Genetic profile of the Madeira Archipelago population using the new PowerPlex 16 System kit. Forensic Sci Int 125: 281-283.
Gusmão L, Gonzaléz-Neira A, Alves C, Sánchez-Diz P, Amorim A, Carracedo A (2002): Genetic diversity of Y specific STRs in Chimpanzees (Pan troglodytes). Amer J Primatol 57: 21-29.
Gusmão L, Alves C, Beleza S, Amorim A (2002): Forensic evaluation and population data on the new Y-STRs DYS434, DYS437, DYS438, DYS439 and GATA A10. Int J Leg Med 116(3): 139-147.
Gusmão L, Gonzaléz-Neira A, Alves C, Lareu MV, Costa S, Amorim A, Carracedo A (2002): Chimpanzee homologous of human Y specific STRs: A comparative study and consequences for nomenclature. Forensic Sci Int 126: 129-136.
Gusmão L, Alves C, Costa S, Amorim A, Brion M, Gonzaléz-Neira A, Sánchez-Diz P, Carracedo A (2002): Point mutations in the flanking regions of the Y-chromosome specific STRs DYS391, DYS437 and DYS438. Int J Leg Med 116(6): 322-326.
Pereira L, Gusmão L, Alves C, Amorim A, Prata MJ (2002): Bantu and European Y-lineages in Sub-Saharan Africa. Ann. Hum. Genet 66: 369-37
Brehm A, Jesus J, Spínola H, Alves C, Vicente L, Harris DJ (2003): Phylogeography of the Madeiran endemic lizard Lacerta dugesii inferred from mtDNA sequences. Mol Phylogenet Evol 26(2): 222-230.
Brehm A, Harris DJ, Alves C, Jesus J, Thomarat F, Vicente L (2003): Structure and evolution of the mithocondrial DNA complete Control Region in the lizard Lacerta dugesii (Lacertidae, Sauria). J Mol Evol 56(1): 46-53.
Sampaio P, Gusmão L, Alves C, Pina-Vaz C, Amorim A, Pais C (2003): Highly polymorphic microsatellite for identification of Candida albicans strains. J Clin Microbiol 41(2):552-557
Beleza S, Alves C, González-Neira, Lareu M, Amorim A, Carracedo A, Gusmão L (2003): Extending STR markers in Y chromosome haplotypes. Int J Leg Med 117(1): 27-33.
Lessig R, Willuweit S, Krawczak M, Wu FC, Pu CE, Kim W, Henke L, Henke J, Miranda J, Hidding M, Benecke M, Schmitt C, Magno M, Calacal G, Delfin FC, Ungria MCA, Elias S, Augustin C, Tun Z, Honda K, Kayser M, Gusmao L, Amorim A, Alves C,
Hou Y, Keyser C, Ludes B, Klintschar M, Immel UD, Reichenpfader B, Zaharova B, Roewer L (2003): Asian online Y-STR Haplotype Reference Database. Legal Med. 5: 160-163
Alves C, Gusmão L, Barbosa J, Amorim A (2003): Evaluating the informative power of Y-STRs: a comparative study using European and new African haplotype data. Forensic Sci Int 134(2-3): 126-133.
Gusmão L, Sánchez-Diz P, Alves C, Beleza S, Lopes A, Carracedo A, Amorim A (2003): Grouping of Y-STR haplotypes discloses European geographic clines. Forensic Sci Int 134(2-3): 172-179.
Gusmao L, Krawczak M, Sanchez-Diz P, Alves C, Lopes A, Beleza S, Carracedo A, Amorim A (2003): Bimodal allele frequency distribution at Y-STR loci DYS392 and DYS438: no evidence for a deviation from the stepwise mutation model. Int J Legal Med 117(5): 287-290
Gusmao L, Sanchez-Diz P, Alves C, Quintans B, Garci;a-Poveda E, Geada H, Raimondi E, Mari;a Silva de la Fuente S, Vide MC, Whittle MR, Zarrabeitia MT, Carvalho M, Negreiros V, Prieto Solla L, Riancho JA, Campos-Sanchez R, Vieira-Silva C, Toscanini U, Amorim A, Carracedo A (2003): Results of the GEP-ISFG collaborative study on the Y chromosome STRs GATA A10, GATA C4, GATA H4, DYS437, DYS438, DYS439, DYS460 and DYS461: population data. Forensic Sci Int 135(2): 150-157.
Alves C, Gusmão L, Damasceno A, Soares B, Amorim A (2004): Contribution for an African autosomic STR database (AmpF/STR Identifiler and Powerplex 16 System) and a report on genotypic variations. Forensic Sci Int 139(2-3): 201-205
López AM, Álvarez S, Gusmão L, Alves C, Mesa MS, Albentosa A, Arribas G, López R, Barrio PA, Amorim A, Arroyo-Pardo E (2004): Population data for 16 Y-chromosome STRs in four populations from Pyrenees (Spain). Forensic Sci Int 140(1): 125-129.
Beleza S, Alves C, Reis F, Amorim A, Carracedo A, Gusmão L (2004): 17 STR data (AmpF/STR Identifiler and Powerplex 16 System) from Cabinda (Angola). Forensic Sci Int 141(2-3): 193-196.
Cherni L, Loueslati Yaâcoubi B, Pereira L, Alves C, Khodjet El Kill H, Ben Ammar El Gaaied A, Amorim A (2005): Data for 15 autosomal STR markers (Powerplex 16 System) from two Tunisian populations: Kesra (Berber) and Zriba (Arab). Forensic Sci Int 147(1): 101-106.
Alves C, Gusmão L, López-Parra AM, Mesa MS, Amorim A, Arroyo-Pardo E (2005): STR allelic frequencies for an African population sample (Equatorial Guinea) using AmpFlSTR Identifiler and Powerplex 16 kits. Forensic Sci Int, 148(2-3): 239-242.
Salas A, Prieto L, Montesino M, Albarrán C, Arroyo E, Paredes-Herrera MR, Di Lonardo AM, Doutremepuich C, Fernández-Fernández I, González de la Veja A, Alves C, López CM, López-Soto M, Lorente JA, Picornell A, Espinheira RM, Hernández A, Palácio AM, Espinoza M, Yunis JJ, Pérez-Lezaun A, Pestano JJ, Carril JC, Corach D, Vide MC, Álvarez-Iglesias V, Pinheiro MF, Whittle MR, Brehm A, Gómez J (2005): Mitochondrial DNA error prophylaxis: assessing the causes of errors in the GEP’02–03 proficiency testing trial. Forensic Sci Int, 148(2-3): 191-198.
Alonso A, Alves C, Suarez-Mier PM, Albarrán C, Pereira L, Simón LF, Martín P, Garcia O, Gusmão L, Sancho M, Amorim A (2005): Mitochondrial DNA haplotyping revealed the presence of mixed-up benign and neoplastic tissue sections from two individuals on the same prostatic biopsy slide. J Clin Pathol, 58: 83-86.
Pereira L, Cunha C, Alves C, Amorim A (2005): African female heritage in Iberia: a reassessment of mtDNA lineage distribution in present times. Hum Biol, 77(2): 213-229.
Cherni L, Pereira L, Goios A, Yacoubi Loueslati B, Khodjet el Khil H, Gomes I, Gusmão L, Alves C, Slama A, Amorim A, BenAmmar Elgaaied A (2005): Y-chromosomal STR haplotypes in three ethnic groups and one cosmopolitan population from Tunisia. Forensic Sci Int, 152: 95-99.
Sampaio P, Gusmao L, Correia A, Alves C, Rodrigues AG, Pina-Vaz C, Amorim A, Pais C (2005): New microsatellite multiplex PCR for Candida albicans strain typing reveals microevolutionary changes. J Clin Microbiol., 43(8): 3869-76.
Souto L, Alves C, Gusmão L, Ferreira E, Amorim A, Côrte-Real F, Vieira DN (2005): Population data on 15 autosomal STRs in a sample from East Timor. Forensic Sci Int 155:77-80.
Frigi S, Pereira F, Pereira L, Yacoubi B, Gusmão L, Alves C, Khodjet el Khil H, Cherni L, Amorim A, El Gaaied A: Data for Y-chromosome haplotypes defined by 17 STRs (AmpFLSTR® Yfiler™) in two Tunisian Berber communities. Forensic Sci Int (in press).
Gusmão L, Sanchez-Diz P, Calafell F, Martin P, Alonso CA, Alvarez-Fernandez F, Alves C, Borjas-Fajardo L, Bozzo WR, Bravo ML, Builes JJ, Capilla J, Carvalho M, Castillo C, Catanesi CI, Corach D, Di Lonardo AM, Espinheira R, Fagundes de Carvalho E, Farfan MJ, Figueiredo HP, Gomes I, Lojo MM, Marino M, Pinheiro MF, Pontes ML, Prieto V, Ramos-Luis E, Riancho JA, Souza Goes AC, Santapa OA, Sumita DR, Vallejo G, Vidal Rioja L, Vide MC, Vieira da Silva CI, Whittle MR, Zabala W, Zarrabeitia MT, Alonso A, Carracedo A, Amorim A (2005). Mutation rates at Y chromosome specific microsatellites. Hum Mutat. 26:520-528.
Beleza S, Gusmao L, Lopes A, Alves C, Gomes I, Giouzeli M, Calafell F, Carracedo A, Amorim A (2006): Micro-phylogeographic and demographic history of Portuguese male lineages. Ann Hum Genet. 70(Pt 2): 181-94.
Martins E, Silva-Cardoso J, Alves C, Pereira H, Soares B, Damasceno A, Abreu-Lima C, Amorim A, Rocha-Goncalves F (2006): Familial dilated cardiomyopathy with troponin T K210del mutation. Rev Port Cardiol. 25(3): 295-300.
Frigi S, Pereira F, Pereira L, Yacoubi B, Gusmão L, Alves C, Khodjet el Khil H, Cherni L, Amorim A, El Gaaied A (2006): Data for Y-chromosome haplotypes defined by 17 STRs (AmpFLSTR® Yfiler™) in two Tunisian Berber communities. Forensic Sci Int 160: 80-83.
Book Chapters and Proceedings
Amorim A, Alves C, Gusmão L (2000): Somatic and germinal mutations in STRs. Progress in Forensic Genetics 8: 37-39.
Alves C, Amorim A, Gusmão L (2000): VWA STR genotyping: inconsistency between Perkin Elmer’s Profiler PlusÔ kit and Promega’s GenePrintÔ. Progress in Forensic Genetics 8: 467-469.
Gusmão L, Gonzaléz-Neira A, Alves C, Amorim A, Carracedo A (2003): Y chromosome Short Tandem Repeat polymorphisms: a comparison between humans and chimpanzees. Progress in Forensic Genetics 9: 287-290.
Alves C, Gusmão L, Pereira L, Amorim A (2003): Multiplex STR genotyping: comparison study, population data and new sequence information. Progress in Forensic Genetics 9: 131-135.
Gusmão L, Alves C, Beleza S, Amorim A (2003): Y-Chromosome STR defined haplotypes in North Portugal. Progress in Forensic Genetics 9: 349-352.
Alves C, Amorim A, Pereira L, Gusmão L (2004): African STR data based on a newly developed tetraplex fluorescent system (CD4, F13A01, FES and MBPB). Progress in Forensic Genetics 10: 133-135.
Amorim A, Alves C, Pereira L, Gusmão L (2004): Genotyping inconsistencies and null alleles using AmpFLSTR® Identifiler® e Powerplex® 16 kits. Progress in Forensic Genetics 10: 176-178.
Gusmão L, Sánchez-Diz P, Alves C, Brión M, Beleza S, Pereira L, Blanco AJ, Prata MJ, Carracedo A, Amorim A (2004): GATA C4 allele 17 as a marker for sub-Saharan origin of Y-chromosome lineages.Progress in Forensic Genetics 10: 281-283.
Gusmão L, Alves C (2004). Y chromosome STR typing. In Methods Mol. Biol. 297: 67-82. Humana Press.
Alves C, Coelho M, Rocha J, Amorim A (2006): The Amelogenin locus displays a high frequency of X homologue failures in São Tomé island (West Africa). Progress in Forensic Genetics 11: 271-273.
Alves C, Gusmão L, Meirinhos J, Amorim A (2006): Making the most of Y-STR haplotypes. The HapYDive. Progress in Forensic Genetics 11: 201-203.
Amorim A, Alves C, Gusmão L, Pereira L (2006): Extended Northern Portuguese database on 21 autosomal STRs used in genetic identification. Progress in Forensic Genetics 11: 364-366.
Soares PA, Pereira F, Brion M, Alves C, Carracedo A, Amorim A, Gusmão L (2006): Relative Y-STR mutation rates from the variance inside SNP defined lineages. Progress in Forensic Genetics 11: 82-84.
Gusmão L, Sánchez-Diz P, Gomes I, Alves C, Carracedo A, Prata MJ, Amorim A (2006): Genetic analysis of autosomal and Y-specific STRs in the Karimojong population from Uganda. Progress in Forensic Genetics 11: 213-215.
Prata MJ, Tavares L, Trovoada MJ, Gusmão L, Beleza S, Alves C, Amorim A (2006): High-resolution analysis of Y-SNPs in three populations from São Tomé and Príncipe. Progress in Forensic Genetics 11: 28-30.
RESEARCH PROJECTS (team member)
POCTI/MGI/35809/1999 - Deficiência em Ornitina Transcarbamilase (OTC): espectro mutacional, análise haplotípica e diagnóstico. Investigador principal: António Manuel Amorim dos Santos.
POCTI/ANT/42510/2001 - Antropogenética do arquipélago de São Tomé e Príncipe: um caso exemplar de microevolução humana. Investigador principal: Jorge Macedo Rocha.
POCTI/ANT/45139/2002 - Reavaliação da diversidade mitocondrial europeia: distribuições das linhagens femininas no presente e no passado. Investigador principal: Luísa Maria de Sousa Mesquita Pereira.
POCI/DES/62499/2004 - Aspectos genéticos da actividade física, aptidão física associada à saúde, sobrepeso e obesidade. Um estudo em gémeos dos 6 aos 20 anos de idade. Investigador principal: José António Ribeiro Maia.
POCI/AFR/62242/2004 – Etnias e genética na fronteira da rota de migração Bantu: o caso dos Karamojong. Investigador principal: Maria Leonor Rodrigues Sousa Botelho Gusmão.
OTHER ACTIVITIES/MATTERS
Oral communications in congresses and course lectures
Human Genetics Course, at the Instituto de Genética Médica Jacinto de Magalhães (IGM), Porto, Portugal, 27 September to 16 December 1999. Organized by OPTDT (Portuguese Organization of Therapeutic and Diagnostic Technicians). Lecture: Application of genetic polimorphisms in human identification: forensic science and parentage investigation.
Molecular Methods for Genomic Variability Studies, Ponta Delgada, Portugal, 21-25 February 2000. Lecture: Application of genetic polimorphisms in human identification: forensic science and parentage investigation.
“V Jornadas de Genética Forense”, meeting of the GEP-ISFG, Funchal, Madeira, Portugal, 31 May to 4 June 2000. Oral communication: Genotipagem do STR VWA: inconsistências entre os kits AmpFlSTR Profiler Plus e GenePrint CTTv (Genotyping of the VWA STR: inconsistencies between AmpFlSTR Profiler Plus and GenePrint CTTv kits). Authors: Alves C, Amorim A, Gusmão L, Pereira L.
"DNA Sequence Analysis" course, at the Escola de Ciências da Saúde and Instituto de Investigação em Ciências da Vida e da Saúde da Universidade do Minho, Braga, Portugal, 25-26 July 2001. Lecture: "DNA sequencing applied to human identification: forensic investigation and parentage analysis ". Co-organized the laboratory sessions.
"19th International ISFG Congress", Münster, Germany, 28 August to 1 September 2001. Oral communication (poster): "Multiplex STR genotyping: comparison study, population data and new sequence information". Authors: Alves C, Gusmão L, Pereira L, Amorim A. Prize: ISFG2001 Award for the most outstanding poster presentation.
“VI Jornadas de Genética Forense”, meeting of the GEP-ISFG, 4-7 October 2001, Córdoba, Argentina. Oral communication: Mutações pontuais nas regiões flanqueadores dos STRs DYS391, DYS437 e DYS438. Authors: Gusmão L, Alves C, Costa S, Amorim A, Brión M, Gonzaléz-Neira A, Carracedo A. Prize: Prémio Agencia Cordoba Cultura for the best work presented.
III International Forensic Y-User Workshop, 7-9 November 2002, Porto, Portugal. Oral communication: Bantu and European Y-lineages in Sub-Saharan Africa. Authors: Pereira L, Gusmão L, Alves C, Amorim A, Prata MJ.
“Promega STR Working Group Meeting”, Barcelona, Spain, 13-14 October 2004. Oral communication: Y-STR Mutations – Results from the 2003/2004 GEP-ISFG Collaborative Exercise.
“8th Portugalia Genetica”, Porto, Portugal, 17-19 March 2005. Oral communication: Y-STR (Short Tandem Repeat) mutations.
Navarro-Costa P, Pereira L, Alves C, Gusmão L, Proença C, Rocha T, Correia S, Jorge S, Neves A, Costa AP, Nunes J, Calhaz-Jorge C, Amorim A, Plancha CE, Gonçalves J: A novel methodology for characterizing the AZFc region of the Y chromosome reveals new recombination mechanisms linked to spermatogenic failure. XXIII Jornadas de Estudos da Reprodução of the Portuguese Society of Reproductive Medicine, 3-5 November 2005, Coimbra, Portugal.
Sampaio P, Gusmão L, Correia A, Alves C, Amorim A and Pais C: Patterns of molecular evolution of two microsatellite loci in the pathogenic yeast Candida albicans. Micro-Biotec-2005 Congress, 30 November to 3 December 2005, Póvoa de Varzim, Portugal.
Post-graduate course on human identification, integrated in the courses “ABZ of Human Genetics” of the Portuguese Human Genetics Society (SPGH), Porto, Portugal, 31 March to 1 April 2006. Lecture: Application of autosomal genetic markers in human identification.
Prizes
"19th International ISFG Congress", Münster, Germany, 28 August to 1 September 2001. Oral communication (poster): "Multiplex STR genotyping: comparison study, population data and new sequence information". Authors: Alves C, Gusmão L, Pereira L, Amorim A. Prize: ISFG2001 Award for the most outstanding poster presentation.
“VI Jornadas de Genética Forense”, meeting of the GEP-ISFG, 4-7 October 2001, Córdoba, Argentina. Oral communication: Mutações pontuais nas regiões flanqueadores dos STRs DYS391, DYS437 e DYS438. Authors: Gusmão L, Alves C, Costa S, Amorim A, Brión M, Gonzaléz-Neira A, Carracedo A. Prize: Prémio Agencia Cordoba Cultura for the best work presented.
Co-organization of congresses/courses
“Portugalia Genetica”, annually in March, since 1998.
“III International Forensic Y-User Workshop”, 7-9 November 2002, Porto, Portugal.
“VIII Jornadas em Genética Forense”, GEP-ISFG meeting, 4-6 June 2003, Porto, Portugal.
Memberships
Member of the Portuguese Pharmaceutical Society since July 1995.
Member of the International Society for Forensic Genetics (ISFG) and of the Spanish and Portuguese Group of the ISFG (GEP-ISFG) since June 1998.
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