河南汉族一成骨不全家系COL1A1基因突变检测

来源 :第十四次全国医学遗传学学术会议 | 被引量 : 0次 | 上传用户:win13790
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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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