22q11 microdeletion test in patients with congenital heart defects by quantitative fluorescent PCR / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 571-575, 2010.
Artigo
em Chinês
| WPRIM
| ID: wpr-234358
ABSTRACT
<p><b>OBJECTIVE</b>To establish an assay for screening chromosome 22q11 microdeletion efficiently, and apply it for detecting del22q11 in patients with non-syndromic congenital heart defects (CHD).</p><p><b>METHODS</b>Seventy nine patients with non-syndromic CHD and 84 normal controls were genotyped for 8 short tandem repeat (STR) markers located in 22q11 region, by using quantitative fluorescence polymerase chain reaction (QF-PCR).</p><p><b>RESULTS</b>The average heterozygosity of the STR markers in patients and controls was 0.76 and 0.79, respectively. One patient with Tetralogy of Fallot (TOF) from the 79 CHD cases (1.3%) was found to have a deletion within chromosome 22q11.2, which was confirmed by multiplex ligation-dependent probe amplification (MLPA).</p><p><b>CONCLUSION</b>The QF-PCR assay developed in this study was a reliable and an efficient alterative approach to screen for 22q11 microdeletion in clinical diagnosis and genetic counseling.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Cromossomos Humanos Par 22
/
Estudos de Casos e Controles
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Reação em Cadeia da Polimerase
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Deleção Cromossômica
/
Repetições de Microssatélites
/
Diagnóstico
/
Fluorescência
/
Genética
/
Cardiopatias Congênitas
/
Métodos
Tipo de estudo:
Estudo diagnóstico
/
Estudo observacional
Limite:
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2010
Tipo de documento:
Artigo
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