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  • Title: [22q11 microdeletion test in patients with congenital heart defects by quantitative fluorescent PCR].
    Author: Chen Y, Mao J, Kwok KY, Kan HJ, Cheng HB, Li HB, Liu MJ, Sun Y, Yan WH, Li H, Choy KW.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2010 Oct; 27(5):571-5. PubMed ID: 20931540.
    Abstract:
    OBJECTIVE: 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). METHODS: 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). RESULTS: 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). CONCLUSION: 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.
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