The research of combining high resolution melting with multiplex ligation-dependent probe amplification technology in the mutation scanning for PAH gene / 中华医学遗传学杂志
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; (6): 649-653, 2011.
Article
en Zh
| WPRIM
| ID: wpr-295562
Biblioteca responsable:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To explore the value of combining high resolution melting (HRM) with multiplex ligation-dependent probe amplification (MLPA) for detecting mutations underlying phenylketonuria.</p><p><b>METHODS</b>HRM was used for detecting small mutations in phenylalanine hydroxylase gene (PAH) of 26 phenylketonuria patients. The results were verified with DNA sequencing. MLPA was used for detecting potential deletions/duplications in the PAH gene. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis was performed for additional potential mutations.</p><p><b>RESULTS</b>A total of 21 mutations were found in 44/52 alleles (84.62%), which included a dupEx4. Among the 21 types of mutation, 19 were reported previously, and the remaining two were novel mutations: c.584_585insA and IVS10+1G>T. In addition, the mutation of R243Q (25%) was the most common type in China.</p><p><b>CONCLUSION</b>The study showed that the combination of HRM and MLPA could increase the detection rate for mutation in PKU. The study has added new information to the human mutation database of PAH and provided a basis for clinical diagnosis and prenatal counseling.</p>
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Índice:
WPRIM
Asunto principal:
Fenilalanina Hidroxilasa
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Fenilcetonurias
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Análisis Mutacional de ADN
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Secuencia de Bases
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Exones
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Sustitución de Aminoácidos
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Técnicas de Amplificación de Ácido Nucleico
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Genética
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Métodos
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Mutación
Límite:
Female
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Humans
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Male
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Newborn
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Año:
2011
Tipo del documento:
Article