论文部分内容阅读
目的研究徐州地区肝豆状核变性(Hepatolenticular degeneration,HLD)患者ATP7B基因8、13外显子突变情况,为本病的早期和产前诊断提供理论依据。方法采集33例HLD患者和30例对照组正常人外周血、提取DNA、PCR扩增ATP7B基因8和13外显子;对扩增产物分别进行限制性内切酶MspI及BtgI酶切分析,反应异常者行DNA测序,最后将突变结果与临床表型作相关性分析。结果 33例HLD患者中,15例存在MspI酶切异常,测序为Arg778Leu杂合或纯合突变,占45.45%(15/33);9例存在BtgI酶切异常,测序为Pro992Leu杂合突变,占27.27%(9/33)。30例正常对照组未检测出突变。结论 ATP7B基因第8、13外显子是徐州地区HLD患者的基因突变热区,筛选本地区HLD可疑患者时应优先检测。
Objective To investigate the mutation of exon 8 and exon 13 of ATP7B gene in patients with Hepatolenticular degeneration (HLD) in Xuzhou, and provide a theoretical basis for the early and prenatal diagnosis of this disease. Methods Peripheral blood of 33 HLD patients and 30 normal controls were collected and DNA was extracted. The exon 8 and 13 of ATP7B gene were amplified by PCR. Restriction endonuclease MspI and BtgI restriction analysis were performed respectively. Abnormal line DNA sequencing, and finally the mutation results and clinical phenotype for the correlation analysis. Results Among the 33 cases of HLD, 15 cases had abnormal MspI digestion and 45.45% (15/33) Arg778Leu heterozygous or homozygous mutations. Nine cases had abnormal BtgI digestion and the sequence was Pro992Leu heterozygous mutation 27.27% (9/33). No mutation was detected in 30 normal controls. Conclusions Exon 8 and exon 13 of ATP7B gene are hot mutation region in HLD patients in Xuzhou area, and should be prioritized when screening suspected HLD patients in this area.