Molecular prenatal diagnosis of alpha-thalassemia using real-time and multiplex polymerase chain reaction methods.
Hemoglobin
; 32(6): 553-60, 2008.
Article
em En
| MEDLINE
| ID: mdl-19065333
ABSTRACT
Molecular analysis of two fetuses at high risk of alpha-thalassemia (alpha-thal), and their family members, was performed using real-time polymerase chain reaction (PCR) with SYBR Green 1 (SYBR-PCR) dye combined with dissociation curve analysis and multiplex PCR (m-PCR) and DNA sequencing techniques. The genotype of the fetus from one family was --SEA/--SEA (Southeast Asian deletion), which produces hydrops fetalis syndrome. The genotype of the parents was --SEA/alphaalpha. A boy with Hb H disease and his sibling fetus from the other family had the genotype --SEA/alphaCSalpha [the Hb Constant Spring (CS) mutation alpha142, Term-->Gln (TAA>CAA in alpha2)] and alphaalpha/alphaalpha (normal), respectively. The diagnosis, based on SYBR-PCR combined with dissociation curve analysis, was in agreement with the results from the m-PCR method. This indicates that these are alternative and reliable assays for the molecular diagnosis of deletional alpha-thal.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Diagnóstico Pré-Natal
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Testes Genéticos
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Reação em Cadeia da Polimerase
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Talassemia alfa
Tipo de estudo:
Diagnostic_studies
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Evaluation_studies
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Prognostic_studies
Limite:
Adult
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Child, preschool
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Female
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Humans
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Male
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Pregnancy
Idioma:
En
Ano de publicação:
2008
Tipo de documento:
Article