【摘 要】
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目的：对河南汉族一成骨不全家系COL1A1基因突变进行检测分析，寻找其致病突变位点.方法：采用PCR技术和DNA直接测序法分析该家系患病者COL1A1基因所有外显子及内含子序列，并与
【机 构】
：
新乡医学院法医物证学教研室 河南新乡,453003
论文部分内容阅读
目的：对河南汉族一成骨不全家系COL1A1基因突变进行检测分析，寻找其致病突变位点.方法：采用PCR技术和DNA直接测序法分析该家系患病者COL1A1基因所有外显子及内含子序列，并与该家系其他正常个体、50名健康个体及GeneBank序列进行比较分析.结果：该家系COL1A1基因共发现15个突变位点，其中包括1个错义突变、1个同义突变及13个内含子变异.该家系患病者均出现COL1A1基因第50外显子的错义突变c.4193T＞G导致p.l1398S(异亮氨酸变为丝氨酸)，且均表现为杂合突变，而先证者的父亲表型正常也存在此突变，在家系其他健康成员均未发现.结论：该家系成骨不全的疾病类型可能为与COL1A1基因相关的常染色体显性遗传伴外显不全.
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