Comparing Two Diagnostic Laboratory Tests for Several Microdeletions Causing Mental Retardation Syndromes: Multiplex Ligation-Dependent Amplification vs Fluorescent In Situ Hybridization / 대한진단검사의학회지
The Korean Journal of Laboratory Medicine
;
: 71-76, 2009.
Artigo
em Inglês
| WPRIM
| ID: wpr-81642
ABSTRACT
BACKGROUND:
Microdeletion syndromes not detectable by conventional cytogenetic analysis have been reported to occur in approximately 5% of patients with unexplained mental retardation (MR). Therefore, it is essential to ensure that patients with MR are screened for these microdeletion syndromes. Mental retardation syndrome multiplex ligation-dependent probe amplification (MRS-MLPA) is a new technique for measuring sequence dosages that allows for the detection of copy number changes of several microdeletion syndromes (1p36 deletion syndrome, Williams syndrome, Smith-Magenis syndrome, Miller-Dieker syndrome, DiGeorge syndrome, Prader-Willi/Angelman syndrome, Alagille syndrome, Saethre-Chotzen syndrome, and Sotos syndrome) to be processed simultaneously, thus significantly reducing the amount of laboratory work.METHODS:
We assessed the performance of MLPA (MRC-Holland, The Netherlands) for the detection of microdeletion syndromes by comparing the results with those generated using FISH assays. MLPA analysis was carried out on 12 patients with microdeletion confirmed by FISH (three DiGeorge syndrome, four Williams syndrome, four Prader-Willi syndrome, and one Miller-Dieker syndrome).RESULTS:
The results of MLPA analysis showed a complete concordance with FISH in 12 patients with microdeletion syndromes.CONCLUSIONS:
On the basis of these results, we conclude that MLPA is an accurate, reliable, and cost-effective alternative to FISH in the screening for microdeletion syndromes.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Síndrome de Prader-Willi
/
Laboratórios Hospitalares
/
Deleção Cromossômica
/
Hibridização in Situ Fluorescente
/
Síndrome de Williams
/
Técnicas de Amplificação de Ácido Nucleico
/
Síndrome de DiGeorge
/
Lissencefalias Clássicas e Heterotopias Subcorticais em Banda
/
Deficiência Intelectual
Tipo de estudo:
Estudo diagnóstico
Limite:
Humanos
Idioma:
Inglês
Revista:
The Korean Journal of Laboratory Medicine
Ano de publicação:
2009
Tipo de documento:
Artigo
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