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Ann N Y Acad Sci ; 1075: 148-53, 2006 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-17108205

RESUMO

The development of a noninvasive method for detection of beta-thalassemia in the population of Cyprus is based on the detection of paternally inherited single nucleotide polymorphisms (SNPs) as well as beta-thalassemia (beta-thal) mutations. We selected 11 informative SNPs for the Cypriot population linked to the beta-globin locus. Two different approaches were used: allele-specific polymerase chain reaction (AS-PCR) and the arrayed primer extension (APEX) method. The AS-PCR approach is being standardized, and the method was applied in two families. The paternally inherited allele was noninvasively detected with the AS-PCR approach on maternal plasma. Some preliminary tests were performed with the APEX method on genomic DNA of parents carrying the beta-thal mutation.


Assuntos
Reação em Cadeia da Polimerase/métodos , Polimorfismo de Nucleotídeo Único , Diagnóstico Pré-Natal/métodos , Talassemia beta , Alelos , Chipre , Feminino , Humanos , Recém-Nascido , Masculino , Linhagem , Gravidez , Sensibilidade e Especificidade , Talassemia beta/diagnóstico , Talassemia beta/genética
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