【摘 要】
：
目的 对眼皮肤白化病(oculocutaneous albinism,OCA)患者仅检出一个致病等位基因的两个核心家系,尝试判断先证者白化病分型和进行下一胎产前基因诊断。方法 应用DNA序列测定法筛查先证者4个OCA基因的致病性突变,结合临床表型特点判定其眼皮肤白化病型,在此基础上运用突变直接检测结合基因内SNPs位点家系连锁分析法进行产前基因诊断。结果 两先证者均仅检出一个OCA2突变等位基因,
【机 构】
：
510080 广州,中山大学中山医学院医学遗传学教研室 510080 广州,中山大学中山医学院医学
【出 处】
：
广东省遗传学会第九届代表大会暨学术研讨会
论文部分内容阅读
目的 对眼皮肤白化病(oculocutaneous albinism,OCA)患者仅检出一个致病等位基因的两个核心家系,尝试判断先证者白化病分型和进行下一胎产前基因诊断。方法 应用DNA序列测定法筛查先证者4个OCA基因的致病性突变,结合临床表型特点判定其眼皮肤白化病型,在此基础上运用突变直接检测结合基因内SNPs位点家系连锁分析法进行产前基因诊断。结果 两先证者均仅检出一个OCA2突变等位基因,结合临床表型特征综合分析判定为OCA2患者,两胎儿基因内SNPs家系连锁分析结果提示二者均为OCA2携带者,出生后表型正常。结论 首次尝试运用单核苷酸多态位点家系连锁分析法对只检出一个致病突变等位基因的OCA高风险孕妇进行产前基因诊断。
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