The application of multiplex ligation-dependent probe amplification technology in diagnosis and prenatal diagnosis of α-thalassemia / 中华血液学杂志
Chinese Journal of Hematology
; (12): 591-594, 2013.
Article
em Zh
| WPRIM
| ID: wpr-272160
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the multiplex ligation-dependent probe amplification (MLPA) technology in the detection of gene deletion and prenatal diagnosis of α-thalassaemia.</p><p><b>METHODS</b>Phenotypes were analyzed by whole blood cell counting and hemoglobin component detection of peripheral blood samples from the subjects. The gene deletions and point mutations of α- thalassaemia were detected with regular gap-PCR and reverse dot blot (RDB) method. At last, the MLPA method was applied for detection of α-globin gene deletion. All the prenatal diagnosis samples were detected with both gap-PCR and MLPA method.</p><p><b>RESULTS</b>α-thalassaemia phenotype was found in 75 samples from 1256 (628 couples) peripheral blood samples for pre-pregnancy or prenatal thalassemia gene screening. Among them, 71 samples carrying α-gene mutations and consistent with phenotypes were detected by routine methods. In the other 3 samples with no α-gene mutations detected and 1 sample with HbH phenotype but genotype of ﹣α(4.2)/αα were analyzed by MLPA and found each one samples of whole α-globin gene cluster deletion, respectively. Seventeen high risk couples were screened. Among the 17 prenatal diagnosis samples, 2 villus samples contaminated by exogenous DNA were confirmed by MLPA method.</p><p><b>CONCLUSION</b>MLPA is an effective complement for α-thalassaemia gene deletion detection. The molecular diagnosis strategy and process of gap-PCR combined with MLPA for α- thalassaemia gene deletion detection can prevent the missing of gene deletion, and false-positive or false-negative misdiagnosis of α-thalassaemia in prenatal diagnosis.</p>
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Índice:
WPRIM
Assunto principal:
Fenótipo
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Diagnóstico Pré-Natal
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Análise Mutacional de DNA
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Família Multigênica
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Deleção de Genes
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Talassemia alfa
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Diagnóstico
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Reação em Cadeia da Polimerase Multiplex
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Genética
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Genótipo
Tipo de estudo:
Diagnostic_studies
Limite:
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:
2013
Tipo de documento:
Article