Identification Of1q21.1Copy Number Variants With Congenital Heart Defects

Objective:The aim of the study was to identify1cases of1q21.1duplication associated with congenital heart disease patient and family members of the copy number variation, find causes of the patient with1q21.1duplication and the associated gene of this site with congenital heart disease.Method:The case was excluded the common chromosome abnormities. Genomic DNA was isolated from peripheral blood leukocytes using a QIAampDNA Blood Mini Kit (Qiagen,Valencia,CA) according to the manufacturer’s instructions. The Human660w-Quad and Human Omni1-Quad Chip (illumina Inc,CA,USA) and the illumina BeadScan genotyping system (Beadstation Scanner) were employed to obtain the signal intensities of probes (SNP) following the manufacturer’s instructions. The BeadStudio3.3.7software was used to analyze the genotypes and evaluate the experimental quality.The patien’CNVs was validated by Real-Time PCR,and compared family members’CNVs with the patient.Result:The patient is the first1q21.1duplication in China.The duplication loci on chromosome1:144972830-146608260sequence,its size is about1.6Mb.The patient’s pathogenic CNVs region was confirmed by the Real-Time PCR and it was microduplication variation.The result of the Real-Time PCR were equal to Array-SNP’s.While the patient’s family member did not find the similar CNVs.Conclusion:1).We have found the first1q21.1duplication in China and rare in the world.2).Congenital heart disease can find the pathogenic cause by advanced molecular genetic diagnosis technology such as SNP-Array.Figures:9; tables:6; Reference:76.