ABSTRACT
Objective:To explore a rapid, economical and efficient approach for molecular detection of 22q11.2 micro-deletion syndrome. Methods: Fifty ventricular septal defect (VSD) patients (33 males and 17 females, age ranged from 1 month to 15 years), who were hospitalized in Nanjing Children's Hospital from Jan. 2004 to Jan. 2005, were randomly selected for this study. The peripheral blood of VSD patients and the buckle cells of their parents were obtained. Three short tandem-repeat polymorphism (STRP) markers, D22S944, 22D_4_2 and 22D_4_3, were used for fluorescent in situ hybridization(FISH)study and genotype analysis. Results: 22D_4_2 and 22D_4_3 produced clear electrophoresis band, and the detections were rapid and efficient. The 3 STRP markers were consistent with the Hardy-Weinberg equilibrium expectations, and their heterozygosity was high in the present population from Chinese Han nationality in Jiangsu province. FISH confirmed that 5 of the 50 VSD patients had a deletion within chromosome 22q11.2. Conclusion: Three STRP markers (D22S944, 22D_4_2 and 22D_4_3) (analysis) combined with FISH as a supplementary is an efficient and reliable approach for detection of (22q11.2 microdeletion.)