1,721,001 research outputs found
PRENATAL DIAGNOSIS OF β-THALASSEMIAS AND HEMOGLOBINOPATHIES
No full text<p class="MsoNormal" style="text-align: justify; line-height: 200%; margin: 0cm 0cm 0pt;"><span style="font-family: " lang="EN-US"><span style="font-size: small;"> </span></span></p><p class="MsoNormal" style="margin: 0cm 0cm 0pt; line-height: 200%; text-align: justify;"><span style="font-family: " lang="EN-US">Prenatal diagnosis of β-thalassemia was accomplished for the first time in the 1970s by globin chain synthesis analysis on fetal blood obtained by placental aspiration at 18-22 weeks gestation. Since then, the molecular definition of the β- globin gene pathology, the development of procedures of DNA analysis, and the introduction of chorionic villous sampling have dramatically improved prenatal diagnosis of this<span style="mso-spacerun: yes;"> </span>disease and of related disorders. <span style="mso-spacerun: yes;"> </span>Much information is now available about the molecular mechanisms of the diseases and the molecular testing is widespread.</span></p><p class="MsoNormal" style="margin: 0cm 0cm 0pt; line-height: 200%; text-align: justify;"><span style="font-family: " lang="EN-US">As prenatal diagnosis has to provide an accurate, safe and early result, an efficient screening of the population and a rapid molecular characterization of the couple at risk, are necessary prerequisites. In the last decades earlier and less invasive approaches for prenatal diagnosis were developed . A overview of the most promising procedure will be done.</span></p><p class="MsoNormal" style="margin: 0cm 0cm 0pt; line-height: 200%; text-align: justify;"><span style="font-family: " lang="EN-US">Moreover, in order to reduce the choice of<span style="mso-spacerun: yes;"> </span><span style="mso-spacerun: yes;"> </span>interrupting <span style="mso-spacerun: yes;"> </span>the pregnancy in case of affected fetus, Preimplantation or Preconceptional Genetic Diagnosis (PGD) has been setting up for several diseases including thalassemias. </span></p><p class="MsoNormal" style="text-align: justify; line-height: 200%; margin: 0cm 0cm 0pt;"> </p>
La tecnologia degli high density array nello studio del profilo d’espressione dell’RNA messaggero nelle linee di ratti sP (Sardinian alcohol-preferring) ed sNP (Sardinian alcohol-no preferring)
No full textAmplificazione primer-specifica (ARMS): un metodo di identificazione di mutazioni puntiformi note applicato alla diagnosi prenatale di β-talassemia
No full textTwo novel mutations in the transmembrane domains of the CFTR gene in subjects of Sardinian descent. (MUTATION REPORT)
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