Application of multiplex ligation-dependent probe amplification to diagnosis and prenatal diagnosis of common aneuploidies / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 212-216, 2011.
Artículo
en Chino
| WPRIM
| ID: wpr-326961
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the application value of the multiplex ligation-dependent probe amplification (MLPA) technique in diagnosis and prenatal diagnosis of chromosomes 13, 18, 21, X and Y aneuploidy.</p><p><b>METHODS</b>Forty-four cases including 30 peripheral blood samples, 10 fetal cord blood samples, and 4 amniotic fluid samples were collected in this study. DNA was isolated from the samples and detected by MLPA, followed by analyzing in ABI310 Genetic Analyzer. Analysis of copy number changes for chromosomes 13, 18, 21, X and Y was carried out with RH-MLPA-analysis software. The routine karyotype analyses were also done for all the samples.</p><p><b>RESULTS</b>Of 44 samples, the results of 42 by MLPA method was consistent with that by chromosome karyotyping. Only one case with trisomy 21 chimerism was failed to reach conclusion. In addition, one case of mark chromosome segment was identified as Y-chromosome segment by MLPA, while karyotyping failed to make judgment. The accurate rate of MLPA was 97.7% (43/44).</p><p><b>CONCLUSION</b>The MLPA technique can simultaneously detect dozens of different target sequences and their copy number changes in a single reaction. It showed high specificity, good reproducibility, was fast and high-throughput. The MLPA technique can be applied to diagnosis and prenatal diagnosis of the common chromosomal aneuploidy.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Diagnóstico Prenatal
/
Cromosomas Humanos Par 13
/
ADN
/
Química
/
Sensibilidad y Especificidad
/
Síndrome de Down
/
Técnicas de Amplificación de Ácido Nucleico
/
Diagnóstico
/
Variaciones en el Número de Copia de ADN
/
Sangre Fetal
Tipo de estudio:
Estudio diagnóstico
Límite:
Femenino
/
Humanos
/
Embarazo
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2011
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS