Detecting 22q11.2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid TBX1 locus
| Autor: | Pengjun Zhao, Liming Bao, Jian Wang, Xike Wang, Yuejuan Xu, Fen Li, Hengjuan Sun, Qi-Hua Fu, Jie Shen, Rang Xu, Kun Sun |
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| Rok vydání: | 2011 |
| Předmět: |
Heart Defects
Congenital Male TBX1 lcsh:Internal medicine medicine.medical_specialty lcsh:QH426-470 Locus (genetics) Single-nucleotide polymorphism Haploidy Biology Polymorphism Single Nucleotide Asian People DiGeorge syndrome DiGeorge Syndrome Genetics medicine Humans SNP Genetics(clinical) Child lcsh:RC31-1245 Cells Cultured Genetic Association Studies Genetics (clinical) medicine.diagnostic_test Incidence Cytogenetics medicine.disease Human genetics lcsh:Genetics Phenotype Genetic Loci Case-Control Studies Child Preschool Cytogenetic Analysis Female T-Box Domain Proteins Research Article Fluorescence in situ hybridization |
| Zdroj: | BMC Medical Genetics, Vol 12, Iss 1, p 169 (2011) BMC Medical Genetics |
| ISSN: | 1471-2350 |
| DOI: | 10.1186/1471-2350-12-169 |
| Popis: | Background Conotruncal heart defects (CTDs) are present in 75-85% of patients suffering from the 22q11.2 deletion syndrome. To date, no consistent phenotype has been consistently correlated with the 22q11.2 deletions. Genetic studies have implicated TBX1 as a critical gene in the pathogenesis of the syndrome. The aim of study was to determine the incidence of the 22q11.2 deletion in Chinese patients with CTDs and the possible mechanism for pathogenesis of CTDs. Methods We enrolled 212 patients with CTDs and 139 unrelated healthy controls. Both karyotypic analysis and multiplex ligation-dependent probe amplification were performed for all CTDs patients. Fluorescence in situ hybridization was performed for the patients with genetic deletions and their relatives. The TBX1 gene was sequenced for all patients and healthy controls. The χ 2 and Fisher's exact test were used in the statistical analysis. Results Thirteen of the 212 patients with CTDs (6.13%) were found to have the 22q11.2 deletion syndrome. Of the 13 cases, 11 presented with a hemizygous interstitial microdeletion from CLTCL1 to LZTR1; one presented with a regional deletion from CLTCL1 to DRCR8; and one presented with a regional deletion from CDC45L to LZTR1. There were eight sequence variants in the haploid TBX1 genes of the del22q11 CTDs patients. The frequency of one single nucleotide polymorphism (SNP) in the del22q11 patients was different from that of the non-del patients (P < 0.05), and the frequencies of two other SNPs were different between the non-del CTDs patients and controls (P < 0.05). Conclusions CTDs, especially pulmonary atresia with ventricular septal defect and tetralogy of Fallot, are the most common disorders associated with the 22q11.2 deletion syndrome. Those patients with both CTDs and 22q11.2 deletion generally have a typical or atypical deletion region within the TBX1 gene. Our results indicate that TBX1 genetic variants may be associated with CTDs. |
| Databáze: | OpenAIRE |
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