【摘 要】
：
杂合性缺失(Loss of heterozygosity, LOH)指某个基因座上的一个等位基因出现杂合缺失,或两个等位基因来自同一个亲本所导致的纯合现象.杂合性缺失大多数临床意义不明,但需警惕该区域内隐性遗传基因、印记基因的致病风险.当患者出现与该区域内隐性遗传基因、印记基因相关的临床表型时,需对相应的基因作进一步检测.地中海贫血(简称地贫,Thalassemia),是一种常染色体隐性遗传溶血性
【机 构】
：
广西壮族自治区妇幼保健院(广西儿童医院、广西妇产医院)遗传代谢中心实验室
【出 处】
：
2014全球华人遗传学大会暨全国第十三次医学遗传学学术会议
论文部分内容阅读
杂合性缺失(Loss of heterozygosity, LOH)指某个基因座上的一个等位基因出现杂合缺失,或两个等位基因来自同一个亲本所导致的纯合现象.杂合性缺失大多数临床意义不明,但需警惕该区域内隐性遗传基因、印记基因的致病风险.当患者出现与该区域内隐性遗传基因、印记基因相关的临床表型时,需对相应的基因作进一步检测.地中海贫血(简称地贫,Thalassemia),是一种常染色体隐性遗传溶血性疾病,地贫基因在广西的携带率高达24％.
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