Analysis of PCCA and PCCB gene mutations in patients with propionic acidemia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 26-30, 2015.
Article
en Zh
| WPRIM
| ID: wpr-239542
Biblioteca responsable:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To analyze PCCA and PCCB gene mutations in 10 Chinese patients with propionic acidemia(PA).</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood leukocytes. The 39 exons and flanking sequences of the PCCA and PCCB genes were amplified with polymerase chain reaction and subjected to direct DNA sequencing.</p><p><b>RESULTS</b>DNA sequencing has revealed that 7 patients have carried a PCCA gene mutation, 2 patients carried PCCB gene mutation and 1 patient carried mutations in both PCCA and PCCB genes. Ten PA mutations were confirmed, including 8 affecting the PCCA gene and 2 affecting the PCCB gene. Three PCCA mutations c.245G>A, IVS15+5del5, c.1288C>T and 2 PCCB mutations c.838insC, c.1087T>C were found for the first time.</p><p><b>CONCLUSION</b>Among Chinese patients with propionic acidemia patients, their genetic mutations are mainly found on the PCCA gene.</p>
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Metilmalonil-CoA Descarboxilasa
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Acidemia Propiónica
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Genética
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Mutación
Límite:
Child, preschool
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Female
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Humans
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Infant
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Male
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Año:
2015
Tipo del documento:
Article