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.
Article
in Zh
| WPRIM
| ID: wpr-234358
Responsible library:
WPRO
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>
Full text:
1
Index:
WPRIM
Main subject:
Chromosomes, Human, Pair 22
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Case-Control Studies
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Polymerase Chain Reaction
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Chromosome Deletion
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Microsatellite Repeats
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Diagnosis
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Fluorescence
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Genetics
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Heart Defects, Congenital
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Methods
Type of study:
Diagnostic_studies
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Observational_studies
Limits:
Humans
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2010
Type:
Article