RESUMO
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.
Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 22/genética , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/genética , Reação em Cadeia da Polimerase/métodos , Estudos de Casos e Controles , Fluorescência , Humanos , Repetições de Microssatélites , Reação em Cadeia da Polimerase/instrumentaçãoRESUMO
OBJECTIVE: To detect 22q11 microdeletion in the children and fetuses affected by congenital heart defects. METHOD: MLPA P250 kit was used to detect 22q11 microdeletion in 100 cases of sporadic congenital heart defects including 40 fetuses and 60 patients diagnosed by ultrasound. RESULT: Two cases from the fetuses and 1 case from the patients were found to have 22q11 microdeletion. CONCLUSION: Three cases had 22q11 microdeletion in the congenital heart defects.