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目的：研究中国人HLD患者ATP7B基因第14外显子的突变情况。方法：采用PCR－SSCP技术及DNA循环测序法对70例HLD患者及50例健康对照组ATP7B基因第14外显子的多态及突变进行研究。结果：发现第14外显子在两组中均表现为两种SSCP电泳迁移带型，其中以Ⅰ型为多见，在患者组与对照组中出现率分别为88．57％与98％，Ⅱ型在两组中分别为11．43％与2％．但两组间无明显差异（X2＝2．502，P＞0．05）。DNA测序揭示两型在碱基序列上相同，与GENEBANK载录的ATP7B基因第14外显子正常序列完全一致，无突变存在。结果：第14外显子非中国人HLD患者基因突变热点，证实了HLD在不同人种间突变位点存在差异。
Objective: To study the mutation of exon 14 of ATP7B gene in Chinese HLD patients. Methods: Polymorphisms and mutations of exon 14 of ATP7B gene in 70 HLD patients and 50 healthy controls were studied by PCR-SSCP and DNA cycle sequencing. Results: Exon 14 was found to have two types of SSCP electrophoresis bands in both groups, of which Ⅰ type was the most common, and the incidence rates in patients and controls were 88.57% and 98%, respectively. Type II was 11.43% and 2% in both groups. However, no significant difference between the two groups (X2 = 2.502, P> 0.05). DNA sequencing revealed that the two types were identical in base sequence and completely identical to the normal sequence of exon 14 of ATP7B gene contained in GENEBANK without mutation. Results: The 14th exon non-HLD Chinese gene mutation hot spots, confirmed that HLD in different inter-ethnic mutation sites there are differences.