RESEARCH ACTIVITIES AND INTERESTS
Human molecular genetics
Population genetics
Pharmacogenetics
Diagnosis of genetic diseases

EDUCATION
Degree in Biology by the Faculty of Sciences, University of Porto, in 1980; PhD in Human Genetics in 1991.
Associate Professor of the same Faculty since 2000.
 
RECENT PUBLICATIONS

International Scientific Journals
PRATA MJ, MIRANDA C, ROCHA J, AMORIM A (2000) Allelic affinities between the F13A common gene products inferred by the analysis of an (AAAG)n STR polymorphism within the 5’ untranslated region. Hum Heredity 50:189-193.

ALVES S, PRATA MJ, FERREIRA F, AMORIM A (2000) Screening of thiopurine S-methyltransferase mutations by horizontal conformation sensitive gel electrophoresis. Hum Mut 15:246-253.

ALVES S, PRATA MJ, FERREIRA F, AMORIM A (2000) Characterization of three new VNTR alleles in the promoter region of the TPMT gene. Hum Mut (Online) 15:121.

PEREIRA L, PRATA MJ, BRIÓN, JOBLING MA, CARRACEDO A, AMORIM A (2000) Clinal variation of YAP+Y chromosome frequencies in Western Iberia. Hum Biol 72:937-944.

PEREIRA L, PRATA MJ, AMORIM A (2000). Diversity of mtDNA lineages in Portugal: not a genetic edge of European variation. Ann Hum Genet 64:491-506.

GUSMÃO L, PRATA MJ, MIRANDA C, TROVOADA MJ, AMORIM A (2001) STR data from S. Tomé e Príncipe (Gulf of Guinea, West Africa). Forensic Sci Int 116:53-54.

GUSMÃO L, PRATA MJ, SÁNCHEZ-DIZ, 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 123:74-75.

ROSSER ZH, ZERJAL T, HURLES ME, ADOJAAN MA, ALAVANTIC D, AMORIM A, AMOS W, ARMENTEROS M, ARROYO E, BARBUJANI G, BECKMAN L, BERTRANPETIT J, BOSCH E, BRADLEY DG, BREDE G, COOPER GC, CÔRTE-REAL HBSM, DE KNIJFF P, DECORTE R, DUBROVA YE, EVGRAFOV O, GILISSEN A, GLISIC S, GÖLGE M, HILL EW, JEZIOROWSKA A, KALAYDJIEVA L, KAYSER M, KRAVCHENCO SA, LAVINHA J, LIVSHITS LA, MARIA S, MCELREAVEY K, MEITINGER TA, BELA MELEGH B, MITCHELL RJ, NICHOLSON J, NØRBY S, NOVELLETTO A, PANDYA A, PARIK J, PATSALIS PC, PEREIRA L, PETERLIN B, PIELBERG G, PRATA MJ, PREVIDERÉ C, RAJCZY K, ROEWER L, ROOTSI S, RUBINSZTEIN DC, SAILLARD J, SANTOS FR, SHLUMUKOVA M, STEFANESCU G, SYKES BC, TOLUN A, VILLEMS R, TYLER-SMITH C, JOBLING MA (2000) Y-chromosomal diversity within Europe is clinal and influenced primarily by geography rather than language. Am J Hum Genet 67:1526-1543.

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.

ALVES S, AMORIM A, FERREIRA F, PRATA MJ (2001) Influence of the variable number of tandem repeats located in the promoter region of the thiopurine methyltransferase gene on enzymatic activity. Clin Pharmacol Ther 70:165-74.

PEREIRA L, MACAULAY V, TORRONI A, SCOZZARI R, PRATA MJ, AMORIM A (2001) Prehistoric and historic traces in the mtDNA of Mozambique: insights into the Bantu expansions and the slave trade. Ann Hum Genet 65:439-458.

BANDELT H-J, ALVES-SILVA J, GUIMARÃES PEM., SANTOS MS, BREHM A, PEREIRA L, COPPA A, LARRUGA JM, RENGO C, SCOZZARI R, TORRONI A, PRATA MJ, AMORIM A, PRADO VF, PENA SDJ (2001) Phylogeography of the human mitochondrial haplogroup L3e: a snapshot of African prehistory and Atlantic slave trade. Ann Hum Genet. 65:549-563.

BREHM A, PEREIRA L, BANDEL H.-J, PRATA M J, AMORIM A (2002) Mitochondrial portrait of the Cabo Verde archipelago: the Senegambian outpost of Atlantic slave trade. Ann Hum Genet 66:49-60.

ALVES S, AMORIM A, FERREIRA F, NORTON l, PRATA MJ (2002) The GSTM1 and GSTT1 genetic polymorphisms and susceptibility to acute lymphoblastic leukemia in children from North Portugal. Leukemia 16:1565-1567.

ALVES S, AMORIM A, PRATA MJ (2002) Evolution of a VNTR located within the promoter region of the thiopurine methyltransferase gene: inferences from population and sequence data. Hum Genet 111:172-178.

PEREIRA L, PRATA MJ, AMORIM A (2002) Mismatch distribution analysis of Y-STR haplotypes as a tool for the evaluation of identity-by-state proportions and significance of matches—the European picture. For Sci International 130:147–155.

DUPANLOUP I, PEREIRA L, BERTORELLE G, CALAFELL F, PRATA MJ, AMORIM, A, BARBUJANI G (2003) A recent shift from polygyny to monogamy in humans is suggested by analysis of worldwide Y-chromosome diversity. J Mol Evol 57:58-97.

TROVOADA MJ, PEREIRA L, GUSMÃO L, ABADE A, AMORIM A, PRATA MJ (2003) Pattern of mtDNA variation in three populations from São Tomé e Príncipe. Ann Hum Genet 68:40-54.

ALVES S, ROCHA J, AMORIM A, PRATA MJ (2004) Tracing the origin of the most common thiopurine methyltransferase (TPMT) variants: preliminary data from patterns of haplotypic association with two CA repeats. Ann Hum Genet. 68:313-23.

MONTIEL R, BETTENCOURT C, SILVA C, SANTOS C, PRATA MJ, LIMA M (2005) Analysis of Y-chromosome variability and its comparison with mtDNA variability reveals different demographic histories between islands in the Azores Archipelago (Portugal). Ann Hum Genet.69:135-144.

FERNANDO O, MOTA P, LIMA M, SILVA C, MONTIEL R, AMORIM, PRATA MJ (2005) Peopling of the Azores Islands (Portugal): Data from the Y Chromosome. Hum Biol 77:189-199.

OLIVEIRA E, ALVES S, QUENTAL S, FERREIRA F, NORTON L, COSTA V, AMORIM A, PRATA MJ (2005) The MTHFR C677T and A1298C polymorphisms and susceptibility to childhood acute lymphoblastic leukemia in Portugal. J Pediatr Hematol Oncol. 27:425-429.

ROSSINO R, VINCIS C, ALVES S, PRATA MJ, MACIS MD, NUCARO AL, SCHIRRU E, CONGIA M (2006) Frequency of the Thiopurine S-Methyltransferase alleles in the ancient genetic isolate of Sardinia. J Clin Pharm Ther 31:283-287.

TROVOADA MJ, TAVARES L, GUSMÃO L, ALVES C, ABADE A, AMORIM A, PRATA MJ (2006) Dissecting the genetic history of São Tomé e Príncipe: a new window from Y-chromosome biallelic markers. Ann Hum Genet (in press).


Proceedings and Book Chapters
PEREIRA L, BRION M, PRATA MJ, JOBLING MA, CARRACEDO A, AMORIM A (2000) Gradient of Y chromosome haplogroup 21 across the Western Iberia. Prog Forensic Genetics 8:281-283.

PEREIRA L, PRATA MJ, AMORIM A (2000) Analysis of mitochondrial DNA hypervariable regions I and II in a North Portuguese population. Prog Forensic Genetics 8:338-340.

BRIÓN M, LAREU MV, PEREIRA L, GONZÁLEZ-NEIRA A, SALAS A, PRATA MJ, AMORIM A, CARRACEDO A (2000). Y chromosome lineages in Iberians: construction of highly informative haplotypes using biallelic markers, STRs and the minisatellite MSY1. Prog Forensic Genetics 8:263-265.

GUSMÃO L, AMORIM A, MARTINS N, PRATA MJ, GONZÁLEZ-NEIRA A, LAREU MV, CARRACEDO A (2000) Y chromosome str haplotypes in Macau (SE China). Prog Forensic Genetics 8:324-326.

PEREIRA L, PRATA MJ, JOBLING MA, AMORIM A (2000) Analysis of the Y chromosome and mitochondrial DNA pools in Portugal. In RENFREW C, BOYLE K (eds) Archaeogenetics: DNA and the population prehistory of Europe. Chapter 20:191-195.

PEREIRA L, MACAULAY V, PRATA MJ, AMORIM A (2003) Differential slave trade to Europe and Brazil from western and eastern African coasts as registered in the mtDNA pool. Prog Forensic Genetics 9:49-52.

PEREIRA L, MACAULAY V, PRATA MJ, AMORIM A (2003) Phylogeny of the mtDNA haplogroup U6. Analysis of the sequences observed in North Africa and Iberia. Prog Forensic Genetics 9:491-493.

PEREIRA L, PRATA MJ, AMORIM A (2003) An evaluation of the proportion of identical Y-STR haplotypes due to recurrent mutation. Prog Forensic Genetics 9:57-60.

FERNANDES AT, GUSMÃO L, PEREIRA L, BREHM A, PRATA MJ, AMORIM A (2003) Y chromosome haplotypes in the Madeira archipelago population. Prog Forensic Genetics 9:367-368.

TROVOADA MJ, PEREIRA L, GUSMÃO L, ABADE A, AMORIM A, PRATA MJ (2004) Insights from pattern of mtDNA variation into the genetic history of SãoTomé e Príncipe. Prog Forensic Genetics 10:377– 379.

GUSMÃO L, SÁNCHEZ-DIZ P, ALVES C, BRIÓN M, BELEZA S, PEREIRA L, BLANCOB A, PRATA MJ, CARRACEDO A, AMORIM A (2004) GATA C4 allele 17 as a marker for sub-Saharan origin of Y-chromosome lineages. Prog Forensic Genetics 10:281–283.

BETTENCOURT C, MONTIEL R, SANTOS C, PRATA MJ, ALUJA MP, LIMA M (2006) Diversity of maternal and paternal lineages in the geographic extremes of the Azores (Santa Maria and Flores islands): insights from mtDNA, Y-chromosome and surname data. Prog Forensic Genetics 11:88-90.

SANTOS C, MONTIEL R, BETTENCOURT C PRATA MJ, ABADE A, ALUJA MP, LIMA M (2006) Peopling, demographic history and genetic structure of the Azores Islands: Integrating data from mtDNA and Y-chromosome. Prog Forensic Genetics 11:85-87.

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. Prog Forensic Genetics 11:213-215.

LÓPEZ-PARRA AM, TAVARES L, GUSMÃO L, MESA MS, PRATA MJ, AMORIM A, ARROYO-PARDO E (2006) Microgeographic mitochondrial DNA patterns in the South Iberia. Prog Forensic Genetics 11:198-200.

OLIVEIRA E, ALVES S, QUENTAL S, FERREIRA F, NORTON L, COSTA V, AMORIM A, PRATA MJ (2006) Outcome in acute lymphoblastic leukaemia: influence of thiopurine methyltransferase genetic polymorphism. Prog Forensic Genetics 11:789-791.

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 e Príncipe. Prog Forensic Genetics 11:28-30.
 
 
RESEARCH PROJECTS (principal investigator)
PBIC/C/CEN/1174/92 - Genética de populações portuguesas: elaboração de uma base de dados (continente e ilhas). (1993-1996)

PRAXIS/2/2.1/BIA/196/94 - Short Tandem Repeats (STRs): genética populacional e estabilidade dos polimorfismos. (1996-1999)

POCTI/MGI/45076/2002 - Tratamento e susceptibilidade na leucemia linfoblática aguda infantil: influência de factores genéticos em enzimas destoxificadoras. (2003-2006)

POCTI/ANT/57037/2004 - Estudo evolutivo e epidemiológico de focos de anemias hereditárias em Portugal. (2005-2008)

Projecto 1931/2006 Programa Saúde XXI/Medida 1.1 - Registo da deficiência genética da metabolização de tiopurinas na população portuguesa e prevenção da toxicidade em terapêuticas citostáticas. (2006-2007)