一颅锁骨发育不全综合征家族的RUNX2基因分析研究

Mutation analysis of the RUNX2 gene in a family with cleidocranial dysplasia

目的检测一个颅锁骨发育不全综合征(CCD)家系RUNX2基因突变情况。方法采用先证者查证法,对CCD家系各成员进行全身健康状况及口腔专科检查,拍摄X线片;抽取先证者及其父母、姐姐外周静脉血,提取基因组DNA,聚合酶链反应(PCR扩增RUNX2基因并测序,将先证者及其父母、姐姐RUNX2基因测序结果进行Blastn比较分析。结果在先证者RUNX2基因的外显子2上发现了一个C→T突变,此突变来自母系染色体该基因568位点的基因突变;密码子CGG→TGG引起RUNX2编码的转录因子第190位保守的精氨酸变成色氨酸,突变型为c.568C>T。结论 c.568C>T突变是导致该家系发病的分子基础。

Objective To analyze the mutations of the RUNX2 gene in a family with cleidocranial dysplasia （CCD）. Methods The general health status of family members with CCD was investigated through propositus verification method. Oral specialized examination and radiological examination were performed. The peripheral venous blood of the proband and her parents and sisters was collected. Genomic DNA was extracted, and the RUNX2 gene from this DNA was amplified by polymerase chain reaction （PCR）. DNA sequences were analyzed with the Blastn program. Results After Blasm analysis, heterozygous C to T transition mutation at nucleotide 568 occurred in exon 2, which converted arginine to tryptophane at codon 190 （c.568C〉T, CGG→TGG）. Conclusion RUNX2 gene is responsible for the CCD in the Chinese family under study. The c.568C〉T mutation is the molecular basis of the CCD in the family.