论文部分内容阅读
急性间歇性卟啉病(AIP)是由羟甲基胆素合成酶(HMBS)基因突变所致的常染色体显性遗传病。目前已发现HMBS基因的300多种突变类型,这些突变类型存在家族独特性和遗传多样性。对AIP患者及其家系中携带突变基因的潜在发病者进行HMBS基因诊断可以积极有效的预防AIP的发生。
Acute intermittent porphyria (AIP) is an autosomal dominant disease caused by mutations in hydroxymethylcholine synthase (HMBS) gene. Up to now, more than 300 types of HMBS gene mutations have been found, which have family uniqueness and genetic diversity. HIPS gene diagnosis of AIP patients and their families with potential mutations in the gene mutation can be a positive and effective prevention of AIP.