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Hypophosphatasia:a case report and gene mutation analysis
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- Author:
- No author available
- Journal Title:
- Chinese Journal of Stomatology
- Issue:
- 9
- DOI:
- 10.3760/cma.j.issn.1002-0098.2017.09.014
- Key Word:
- No keyword available
Abstract： 低磷酸酯酶症(hypophosphatasia,HP)是一种罕见的常染色体显性或隐性遗传病,病因为编码组织非特异性碱性磷酸酶(tissue-non-specific alkaline phosphatase,TNAP)的碱性 磷 酸 酶 基 因(liver/bone/kidney alkaline phosphatase, ALPL)突变,主要影响患者骨骼和牙齿发育,严重型HP患病率约为10万分之一[1].HP通常分为围产期型致死型、围产期良性型、婴儿型、儿童型、成年型和牙型[2].本研究检测1例牙型HP患者的ALPL基因突变,评估了突变对蛋白功能的影响,并探讨该突变与临床表型的关系.
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