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肝豆状核变性(HLD)又称Wilson病(WD),是常染色体隐性遗传的铜代谢障碍病。该病常起病于青少年时期,临床表现复杂多样。WD基因的成熟mRNA编码1个含1 411个氨基酸残基的蛋白质,即-种P型铜转运ATP酶(ATP7B),参与铜的跨膜转运。所有WD患者都有ATP7B基因突变。目前国际上已被检测的有300多种突变。WD临床表现的复杂性给临床诊断带来较大困难,迫切需要建立准确、快速的分子诊断方法,并进行症状前诊断或产前诊断。
Hepatolenticular degeneration (HLD), also known as Wilson’s disease (WD), is an autosomal recessive disorder of copper metabolism. The disease often onset in adolescence, complex and diverse clinical manifestations. The mature mRNA of WD gene encodes a protein with 1 411 amino acid residues, namely P-type copper transport ATPase (ATP7B), which is involved in transmembrane transport of copper. All WD patients have ATP7B gene mutations. There are over 300 kinds of mutations that have been tested in the world at present. The complexity of clinical manifestation of WD brings great difficulty to clinical diagnosis, and there is an urgent need to establish accurate and rapid molecular diagnostic methods and make pre-symptomatic or prenatal diagnosis.