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目的 报告 1中国人常染色体显性遗传颅锁骨发育不良的临床病例并对其致病基因RUNX 2进行突变鉴定。方法 根据患儿的症状、体征、骨骼系统放射线检查和相关血液生化检查进行临床诊断。提取患儿外周血DNA ,PCR扩增RUNX 2编码氨基酸的 7个外显子片段 ,测序检测突变。结果 患儿 ,女 ,5岁 ,具有前囟大、双锁骨缺失、身材矮小、牙齿异常等典型颅锁骨发育不良临床表现。PCR扩增片段直接测序显示患儿RUNX 2外显子 2内发生R190W (5 6 8C >T)错义突变。该突变通过PCR产物的HaeIII限制酶切分析得到进一步确认。结论 报告一例颅锁骨发育不良病例并发现RUNX 2一复发点突变为其致病的遗传基础。
Objective To report a clinical case of Chinese autosomal dominant cranial clavicular dysplasia and identify the mutation of its pathogenicity gene RUNX 2. Methods According to children’s symptoms, signs, skeletal system radiological examination and related blood biochemical tests for clinical diagnosis. Peripheral blood DNA was extracted from children and 7 exons of RUNX 2 encoded amino acids were amplified by PCR. The mutations were detected by sequencing. Results Children, female, 5 years old, with a large anterior fontanelle, double clavicular loss, short stature, abnormal dental cataract dysplasia and other typical clinical manifestations. Direct sequencing of the PCR amplified fragment revealed a R190W (568C> T) missense mutation in RUNX2 exon 2 in children. This mutation was further confirmed by HaeIII restriction analysis of the PCR product. Conclusions A case of cranial clavicular dysplasia was reported and found to be a genetic basis of a pathogenic mutation in a RUNX 2 recurrence point.