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甲型血友病（ＨＡ）是常见的Ｘ连锁遗传性疾病。其分子致病机理除内含子２２倒位外，大多为散在的点突变。本文利用聚合酶链反应及变性梯度凝胶电泳技术（ＰＣＲ－ＤＧＧＥ）对５０例无内含子倒位的ＨＡ进行外显子２３基因突变的筛选，对泳动异常条带进行顺序分析，发现１例轻中型ＨＡ家系在２１５０位有Ｇ→Ａ的突变，即精氨酸→组氨酸的突变，该突变属于“ＣｐＧ”遗传性突变，并对该家系第Ⅲ代女性成员进行ＰＣＲ－ＤＧＧＥ分析及对该位点进行直接测序分析，排除了她们为携带者的可能。ＰＣＲ－ＤＧＧＥ不仅能够阐明ＨＡ的发病致病机理，并可为某些无多态性信息的家系的遗传咨询提供依据。
Hemophilia A (HA) is a common X-linked genetic disorder. In addition to its molecular pathogenesis intron 22 inversions, mostly scattered point mutations. In this study, PCR-DGGE was used to screen for mutations of exon 23 in 50 inversions of intronless HA, One case of mild to moderate HA family had G → A mutation at 2150, namely arginine → histidine mutation. This mutation belongs to the “CpG” genetic mutation. The third generation of female members of this pedigree were subjected to PCR-DGGE Analysis and direct sequencing analysis of the site, ruled out the possibility of them as carriers. PCR-DGGE can not only clarify the pathogenesis of HA, but also provide evidence for the genetic counseling of some families without polymorphism.