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目的探索Goldenhar综合征的致病原因。方法采集7例患者及其父母和正常同胞的详细临床资料和基因组DNA,PCR扩增SALL1和TCOF1的全部外显子及部分内含子,用直接双向测序、Blast比对进行突变分析。结果在SALL1发现了2个多态数据库已报道的单核苷酸多态;在TCOF1基因中发现了7个序列变异,其中6个已被报道为多态,1个为新发现的内含子突变。所有序列变异都存在于患者的正常亲属中,与疾病表型无共分离现象。结论排除了SALL1和TCOF1外显子突变导致此7例患者颜面畸形的可能性。
Objective To explore the etiology of Goldenhar syndrome. Methods The clinical data and genomic DNA of seven patients, their parents and their normal siblings were collected. All the exons and partial introns of SALL1 and TCOF1 were amplified by PCR, and the mutations were analyzed by direct two-way sequencing and Blast comparison. Results A single nucleotide polymorphism (SNP) was reported in two polymorphic databases at SALL1. Seven mutations were found in the TCOF1 gene, six of which were reported as polymorphic and one was a newly discovered intron mutation. All sequence variations are present in the normal relatives of patients with no co-segregation with the disease phenotype. Conclusion The exclusion of mutations in SALL1 and TCOF1 led to the possibility of facial deformity in the seven patients.