Study on genetic diagnosis and prenatal diagnosis of alpha-thalassemia / 中华血液学杂志
Chinese Journal of Hematology
; (12): 103-105, 2005.
Article
em Zh
| WPRIM
| ID: wpr-229896
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To develop a single-tube multiplex polymerase chain reaction (mPCR) technique to detect three common deletional alpha-thalassemias (alpha-Thal) in Chinese, and to perform genetic diagnosis and prenatal diagnosis for an alpha-Thal family from Hebei province, China.</p><p><b>METHODS</b>Fourty-two blood samples including samples from one alpha-Thal family from Hebei province were assayed. The mPCR containing 7 primers, gel electrophoresis and DNA sequencing were used for the genetic diagnosis and prenatal diagnosis.</p><p><b>RESULTS</b>The gene types of the fourty-two DNA samples analyzed by the mPCR-gel electrophoresis technique were in accordance with the results by Southern blot and three separate PCR techniques. A HbH child and a fetus of the alpha-Thal family were diagnosed as--(SEA)/alpha(cs)alpha and alpha alpha/alpha alpha respectively by using the mPCR and DNA sequencing. The result of postnatal analysis of the cord blood was consistent with the prenatal result (alpha alpha/alpha alpha).</p><p><b>CONCLUSION</b>The developed mPCR technique can be used for genetic diagnosis and prenatal diagnosis of the 3 deletional alpha-Thal in Chinese.</p>
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Índice:
WPRIM
Assunto principal:
Diagnóstico Pré-Natal
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Testes Genéticos
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Reação em Cadeia da Polimerase
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Saúde da Família
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Análise de Sequência de DNA
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Mutação Puntual
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Deleção de Genes
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Talassemia alfa
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Técnicas de Diagnóstico Molecular
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Diagnóstico
Tipo de estudo:
Diagnostic_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:
Zh
Revista:
Chinese Journal of Hematology
Ano de publicação:
2005
Tipo de documento:
Article