<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>1645-0523</journal-id>
<journal-title><![CDATA[Revista Portuguesa de Ciências do Desporto]]></journal-title>
<abbrev-journal-title><![CDATA[Rev. Port. Cien. Desp.]]></abbrev-journal-title>
<issn>1645-0523</issn>
<publisher>
<publisher-name><![CDATA[Faculdade de Desporto da Universidade do Porto]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1645-05232007000200002</article-id>
<title-group>
<article-title xml:lang="pt"><![CDATA[Determinação da gemelaridade: do questionário de Peeters aos micro-satélites aleatórios espalhados pelo DNA]]></article-title>
<article-title xml:lang="en"><![CDATA[Zygosity determination: From Peeters´ questionnaire to DNA microsatelites]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Maia]]></surname>
<given-names><![CDATA[José António Ribeiro]]></given-names>
</name>
<xref ref-type="aff" rid="A01"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Fernandes]]></surname>
<given-names><![CDATA[Sónia Cristina de Tavares e Cruz]]></given-names>
</name>
<xref ref-type="aff" rid="A01"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Amorim]]></surname>
<given-names><![CDATA[António]]></given-names>
</name>
<xref ref-type="aff" rid="A02"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Alves]]></surname>
<given-names><![CDATA[Cíntia]]></given-names>
</name>
<xref ref-type="aff" rid="A02"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Gusmão]]></surname>
<given-names><![CDATA[Leonor]]></given-names>
</name>
<xref ref-type="aff" rid="A02"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Pereira]]></surname>
<given-names><![CDATA[Luísa]]></given-names>
</name>
<xref ref-type="aff" rid="A02"/>
</contrib>
</contrib-group>
<aff id="A02">
<institution><![CDATA[,Universidade do Porto IPATIMUP - Instituto de Patologia e Imunologia Molecular ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="A01">
<institution><![CDATA[,Universidade do Porto Faculdade de Desporto Laboratório de Cineantropometria]]></institution>
<addr-line><![CDATA[Porto ]]></addr-line>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>08</month>
<year>2007</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>08</month>
<year>2007</year>
</pub-date>
<volume>7</volume>
<numero>2</numero>
<fpage>147</fpage>
<lpage>155</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_arttext&amp;pid=S1645-05232007000200002&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_abstract&amp;pid=S1645-05232007000200002&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_pdf&amp;pid=S1645-05232007000200002&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="pt"><p><![CDATA[Com a realização deste estudo pretendíamos testar a validade de um método indirecto para avaliação da gemelaridade em estudos na população portuguesa. Da pesquisa participaram 96 gémeos (45 grupos gemelares monozigóticos e dizigóticos), de ambos os sexos, dos 6 aos 12 anos de idade, e as respectivas mães biológicas, num total de 141 sujeitos. A determinação da zigotia foi efectuada com recurso a dois métodos: (1) Método indirecto, através da aplicação do questionário de Peeters et al. (1998) às mães dos gémeos; (2) Método directo, através da recolha de sangue (pequena picadela no dedo) a cada um dos membros dos grupos de gémeos e posterior análise do DNA em laboratório. A proporção global de gémeos correctamente classificados como monozigóticos e dizigóticos com recurso ao questionário foi de 97,8%. O valor do teste do qui-quadrado é altamente significativo (c²=41.053, p<0.0001), reforçado pelo teste de McNemar (p<0.0001). Face aos resultados obtidos, conclui-se que o questionário de Peeters et al. (1998) apresenta validade transcultural para avaliação da gemelaridade em estudos na população portuguesa.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[This study had the purpose of testing the validity of an indirect method to assess zygosity in twin studies in the Portuguese population. The sample included 96 twins (45 monozygotic and dizygotic twin groups), of both sexes, from 6 to 12 yrs old, and their biological mothers, summing 141 subjects. Two methods were used to determine zygosity: (1) Indirectly, through Peeters et al. (1998) questionnaire filled out by the mothers; (2) Directly, through blood sampling of each twin member, and their DNA was analysed in the laboratory. Proportion of correct classification of twins as monozygotic or dizygotic through Peeters et al. (1998) Questionnaire was 97,8%. The Qui-Square test was highly significant (c²=41.053, p<0.0001), and it was reinforced by McNemar test (p<0.0001). The results allow us to conclude that Peeters et al. (1998) Questionnaire shows transcultural validity to assess zygosity in twin studies in the Portuguese Population.]]></p></abstract>
<kwd-group>
<kwd lng="pt"><![CDATA[gemelaridade]]></kwd>
<kwd lng="pt"><![CDATA[gémeos]]></kwd>
<kwd lng="pt"><![CDATA[questionário]]></kwd>
<kwd lng="pt"><![CDATA[DNA]]></kwd>
<kwd lng="pt"><![CDATA[validade]]></kwd>
<kwd lng="en"><![CDATA[gemelarity]]></kwd>
<kwd lng="en"><![CDATA[twins]]></kwd>
<kwd lng="en"><![CDATA[questionnaire]]></kwd>
<kwd lng="en"><![CDATA[DNA]]></kwd>
<kwd lng="en"><![CDATA[validity]]></kwd>
</kwd-group>
</article-meta>
</front><body><![CDATA[ <p align="center"><b>Determinação da gemelaridade: do questionário de Peeters    aos micro-satélites aleatórios espalhados pelo DNA</b></p>     <p>&nbsp;</p>       <p align="center"><b>José António Ribeiro Maia<sup>1</sup></b></p>     <p align="center"><b>Sónia Cristina de Tavares e Cruz Fernandes<sup>1</sup></b></p>     <p align="center"><b>António Amorim<sup>2</sup></b></p>     <p align="center"><b>Cíntia Alves<sup>2</sup></b></p>     <p align="center"><b>Leonor Gusmão<sup>2</sup></b></p>     <p align="center"><b>Luísa Pereira<sup>2</sup></b></p>     <p align="center"></p>     <p align="center"><sup>1</sup>Laboratório de Cineantropometria, Universidade do    Porto, Portugal</p>     ]]></body>
<body><![CDATA[<p align="center"><sup>2</sup>IPATIMUP, Universidade do Porto, Portugal</p>      <p>&nbsp;</p>       <p><b>Resumo</b></p>      <p>Com a realização deste estudo pretendíamos testar a validade de um método indirecto para avaliação da gemelaridade em estudos na população portuguesa. Da pesquisa participaram 96 gémeos (45 grupos gemelares monozigóticos e dizigóticos), de ambos os sexos, dos 6 aos 12 anos de idade, e as respectivas mães biológicas, num total de 141 sujeitos. A determinação da zigotia foi efectuada com recurso a dois métodos: (1) Método indirecto, através da aplicação do questionário de Peeters <i>et al. </i>(1998) às mães dos gémeos; (2) Método directo, através da recolha de sangue (pequena picadela no dedo) a cada um dos membros dos grupos de gémeos e posterior análise do DNA em laboratório. A proporção global de gémeos correctamente classificados como monozigóticos e dizigóticos com recurso ao questionário foi de 97,8%. O valor do teste do qui-quadrado é altamente significativo (c<sup>2</sup>=41.053, <i>p</i>&lt;0.0001), reforçado pelo teste de McNemar (<i>p</i>&lt;0.0001). Face aos resultados obtidos, conclui-se que o questionário de Peeters <i>et al</i>. (1998) apresenta validade transcultural para avaliação da gemelaridade em estudos na população portuguesa.</p>      <p>&nbsp;</p>      <p><i>Palavras-chave</i>: gemelaridade, gémeos, questionário, DNA, validade </p>      <p>&nbsp;</p>      <p><b>Abstract</b></p>      <p><b>Zygosity determination: From Peeters´ questionnaire to DNA microsatelites</b></p>      <p></p>      ]]></body>
<body><![CDATA[<p>This study had the purpose of testing the validity of an indirect method to assess zygosity in twin studies in the Portuguese population. The sample included 96 twins (45 monozygotic and dizygotic twin groups), of both sexes, from 6 to 12 yrs old, and their biological mothers, summing 141 subjects. Two methods were used to determine zygosity: (1) Indirectly, through Peeters <i>et al</i>. (1998) questionnaire filled out by the mothers; (2) Directly, through blood sampling of each twin member, and their DNA was analysed in the laboratory. Proportion of correct classification of twins as monozygotic or dizygotic through Peeters <i>et al</i>. (1998) Questionnaire was 97,8%. The Qui-Square test was highly significant (c<sup>2</sup>=41.053, <i>p</i>&lt;0.0001), and it was reinforced by McNemar test (<i>p</i>&lt;0.0001). The results allow us to conclude that Peeters <i>et al</i>. (1998) Questionnaire shows transcultural validity to assess zygosity in twin studies in the Portuguese Population.</p>      <p>&nbsp;</p>      <p>Key-words&nbsp;: gemelarity, twins, questionnaire, DNA, validity</p>      <p>&nbsp;</p>     <p>&nbsp;</p>      <p>Texto completo disponível apenas em PDF.</p>     <p>Full text only available in PDF format.</p>     <p>&nbsp;</p>     <p>&nbsp;</p>      <p><b>Referências Bibliográficas</b></p>     ]]></body>
<body><![CDATA[<!-- ref --><p>1.&nbsp;&nbsp;&nbsp; Borges-Osório,    M.; Robinson, W. (2002). <i>Genética humana</i>. Artmed. Porto Alegre.&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;[&#160;<a href="javascript:void(0);" onclick="javascript: window.open('/scielo.php?script=sci_nlinks&ref=735334&pid=S1645-0523200700020000200001&lng=','','width=640,height=500,resizable=yes,scrollbars=1,menubar=yes,');">Links</a>&#160;]<!-- end-ref --><p>2.&nbsp;&nbsp;&nbsp;     Bouchard, C.; Malina, R.; Pérusse, L. (1997). <i>Genetics of fitness and physical    performance</i>. Human Kinetics. Champaign.</p>     <p>3.&nbsp;&nbsp;&nbsp; Bryan, E.    (1995). <i>Twins, triplets &amp; more. Their nature, development &amp; care</i>. Penguin Books. London.</p>     <p>4. Chen, W.; Chang, H.; Wu, M.; Lin, C.; Cheng, C.; Chiu, Y-N.; Soong,    W-T. (1999). Diagnosis of zygosity by questionnaire and polymarker polymerase    chain reaction in young twins. <i>Behaviour Genetics</i> 29 (2):115-123.</p>     <p>5.&nbsp;&nbsp;&nbsp; Derom,    R.; Vlietick, R.; Derom, C.; Keith, L.; Van Den Derghe, H. (1991). Zygosity    testing at birth: A plea to the obstetrician. <i>J Perinat Med</i> 19:    234-240.</p>     <p>6.&nbsp;&nbsp;&nbsp;     Dugoff,    L.; Litman, E.; Hobbins, J.; Leslie, K (1995). A non-invasive approach    in prenatal determination of fetal Rhesus D Status by DNA amplification. <i>J    Soc Gynecol Invest</i> 2 (2): 184.</p>     <p>7.&nbsp;&nbsp;&nbsp;  Elston, R.; Olson,    J.; Palmer, L. (2002). <i>Biostatistical genetics and genetic epidemiology.</i>    John Wiley &amp; Sons, Ltd. Londres</p>     <p>8.&nbsp;&nbsp;&nbsp; Essen-Møller,    E. (1939)*. Die beweiskraft der ahnlichkeit im vaterschftsnachweiss.    Theoretische brundlagen.    <i>Mitt. Anthrop. Ges. Wien.</i> 68:9-53. </p>     <p>9.&nbsp;&nbsp;&nbsp; Gingras, P. (1999). Identical differences. <i>The Lancet</i>    353: 562.</p>     <p>10.Gingras, P.; Chen, W. (2001). Mechanisms for differences in monozygous twins.    <i>Early Human Development</i> 64:105-117.</p>     ]]></body>
<body><![CDATA[<p>11. Hall, J. G. (2003). Twinning. <i>The Lancet</i>    362:735-743.</p>     <p>12. Keith, L.; Machin, G. (1997). Zygosity testing:    current status and evolving issues. <i>J Reprod Med</i> 11: 699-707.</p>     <p>13. Lareu MV, Phillips CP, Carracedo A, Lincoln AJ, Syndercombe Court    D, Thomson JA (1994) Investigation of the STR locus    HUMTH01 using PCR and two electrophoresis formats: UK and Galician Caucasian    population surveys and usefulness in paternity investigations. <i>Forensic Sci Int</i>    66: 41-52.</p>     <p>14.Loos, R.; Beunen, G.; Fagard, R.; Derom, C.;    Vlietinck, R.; Phillips, D. (2001). Twin Studies and Estimates of Heritability.    <u>The Lancet</u>. 357, 1445.</p>     <p>15.Maia, J. A. R.; Thomis, M.; Beunen, G. (2002).    Genetic factors in physical activity. A twin study. <i>American Journal of Preventive    Medicine</i> 23(2S):87-91.</p>     <p>16.Maia, J.; Lopes, V. (2003). <i>Estudo do crescimento    somático, aptidão física, actividade física e capacidade de coordenação corporal    de crianças do 1º CEB da Região Autónoma dos Açores</i>. DREFD, DRCT e FCDEF-UP (eds). Porto.</p>     <p>17.Mange, E.; Mange, A.    (1999). <i>Basic Human Genetics</i>. Sinauer Associates, Inc. Publishers, 2<sup>nd</sup>    ed. Massachusetts.</p>     <p>18. Merriman, C.    (1924)*. The intellectual resemblance of twins. <i>Psychological monografs</i> 33: 1-58.</p>     <p>19.Neale, M.;    Cardon, L. (1989). <i>Methodology for genetic studies of twins and families</i>.    Kluwer Academic Press. Dordrecht.</p>     <p>20. Oliveira, M.; Maia, J. (2002). <i>Avaliação multimodal    da actividade física. Um estudo exploratório em gémeos monozigóticos e dizigóticos</i>.    Porto. FCDEF-UP.</p>     ]]></body>
<body><![CDATA[<p>21.    Peeters,    H.; Van Gestel, S.; Vlietinck, R.; Derom, C.; Derom, R. (1998). Validation    of a telephone zygosity questionnaire in twins of known zygosity. <i>Behavioral Genetics</i> 28:159-163.</p>     <p>22.Philips, D. (1993). Twin studies in medical    research: can they tell us whether diseases are genetically determined? <i>The    Lancet</i> 341: 1008-1009.</p>     <p>23.    Regateiro,    F. J. (2003). <i>Manual de Genética Médica</i>. Imprensa da Universidade. Coimbra.</p>     <p>24. Ricci,    U.; Lapi, E.; Gaarduci, S.; Andreucci, E.; Bacci, C.; Toschi, B.; Brenner, C.;    Uzielli, M. (2004). Twin zygosity studies with the formula from DNA &#8211; View’s Kinship    Module after molecular analysis by polymorphic markers. <i>International Congress    Series</i> 1261: 452-453.</p>     <p>25.    Sapage,    I. L. L.; Maia, J. A. R. (2005). <i>Factores Genéticos e Ambientais nos Níveis    e Padrões de Actividade Física</i>. Omniserviços: Lisboa (em preparação).</p>     <p>26. Sarna, S.; Kaprio, J.; Sistonen, P.; Koskenvuo,    M. (1978). Diagnosis of twin zygosity by    mailed questionnaire. <i>Human Heredity</i> 28:241-254.</p>     <p>27. Seagal, N. (1984).    Zygosity diagnosis: laboratory and investigator’s judgement. <i>Acta Gen Med    Gemellol</i> 33: 515-520.</p>     <p>28. Seagal, N. L. (1999).    <i>Entwined Lives</i>. Dutton Books. New York.</p>     <p>29. Siemens, H. (1924). <i>Zwiligspathologie: Ihre    Bedeutung; ihre Methodik, ihre bisherigen Ergebnisse</i>. Springer    Verlag. Berlin.</p>     <p>30. Spector, T.; Snider, H.; MacGregor, A. (2000).    <i>Advances in twin and sib-pair analysis</i>. Kniphorst London.</p>     ]]></body>
<body><![CDATA[<p>31. Spitz, E.; Moutier, R.; Reed, T.; Busnel,    M.; Marchaland, C.; Poubertoux, P.; Carlier, M. (1996). Comparatives diagnoses    of twin Zygosity by SSLP variant analysis. <i>Behav Genet</i> 26: 55-63.</p>     <p>32. St. Clair, D. M.;    St. Clair, J. B.; Swainson, C. P.; Bamforth, F.; Machin, G. A. (1998). Twin    zygosity testing for medical purposes. <i>American Journal of Medical Genetics</i>    77:412-414.</p>     <p>33.Vlietinck, R. F. (1986). <i>Determination of the zygosity of twins</i>.     Dissertação de doutoramento. Departamento de Biologia Humana e Centro de genética    Humana. Universidade Católica de Lovaina. Lovaina.</p>     <p>34.Von    Wurmb-Schwark, N.; Schwark, T.; Christiansen, L.; Lorenz, D.; Oehmichen, M.    (2004). The use of different multiplex PCRs for twin zygosity determination    and its application in forensic trace analysis. <i>Legal Medicine</i>    6:125-130.</p>     <p>35.Ward, K.; McInnes, A. (1995). Twin Zygosity    using short tandem repeat DNA markers. <i>J Soc Gynecol Invest</i> 2    (2): 184</p>     <p>36.Zhang, Y.; Lawrence,    S.; Ryder, O.; Zhang, Y.; Isaza, R. (2000). Identification of Monozygotic Twin    Chimpanzees by Satellite Analysis. <i>Am Journal of Primatololy </i>52: 101-106.</p>     <p>37. Zhao, J. H.; Sham, P. C. (1998). A method for calculating probability    convolution using “ternary” numbers with application in the determination of    twin zygosity.  <i>Computational Statistics &amp; Data Analysis</i> 28:225-232.</p>       <p>&nbsp;</p>      <p><b>Agradecimentos </b></p>         <p>1) este estudo foi financiado por uma bolsa de investigação da Fundação        para a Ciência e Tecnologia (POCI/DES/62499/2004); (2) ao revisor anónimo,        cujas sugestões ajudaram a melhorar alguns aspectos do texto.</p>         ]]></body>
<body><![CDATA[<p>&nbsp;</p>         <p><b>Correspondência</b></p>         <p><b>José António Ribeiro Maia</b></p>         <p>Laboratório de Cineantropometria</p>         <p>Faculdade de Desporto, Universidade do Porto</p>         <p>Rua Dr. Plácido Costa, 91</p>         <p>4200-450 Porto</p>          ]]></body><back>
<ref-list>
<ref id="B1">
<nlm-citation citation-type="book">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Borges-Osório]]></surname>
<given-names><![CDATA[M.]]></given-names>
</name>
<name>
<surname><![CDATA[Robinson]]></surname>
<given-names><![CDATA[W.]]></given-names>
</name>
</person-group>
<source><![CDATA[Genética humana.]]></source>
<year>2002</year>
<publisher-loc><![CDATA[Porto Alegre ]]></publisher-loc>
<publisher-name><![CDATA[Artmed]]></publisher-name>
</nlm-citation>
</ref>
</ref-list>
</back>
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