肝豆状核变性ATP7B基因型与临床表型相关性研究儿科学专业论文.docxVIP

山西医科大学硕士论文 山西医科大学硕士论文 PAGE PAGE 2 结 论： (1) WD患儿以肝脏损害表现为主。 (2) 血清铜蓝蛋白、24 小时尿铜及 K-F 环是 WD 诊断重要的临床指标。 (3) 本研究检测出的 12 号外显子 del930I 突变及 16 号外显子 V1121A 突变是首 次发现的突变。R778L 突变是我国的一大热点突变。 (4) 本研究中R778L突变与临床表型无明显相关性，尚需进一步加大样本量进行 分析。 关 键 词： 肝豆状核变性；ATP7B基因；基因突变；聚合酶链反应；铜代谢；铜蓝蛋白； 角膜色素环 山西医科大学硕士学位论文 山西医科大学硕士学位论文 Study on The Relationship of The ATP7B Gene Mutation and Clinical Phenotype in Wilson Disease Patients Abstract Objectives: Analysis of liver degeneration (WD) in children with clinical characteristics and laboratory test results, improve the ability of recognition and diagnosis of the disease. Study of WD patients ATP7B gene sequencing results, to explore the relationship between the genotype and clinical phenotype, to provide genetic basis for the diagnosis and treatment and prognosis of the disease. Methods: The 7 cases showed different degree of liver damage in children with symptoms,including 1 case with nervous system symptoms,1 case with hemolytic anemia,1 case with kidney damage. Using human genome DNA extraction ， polymerase chain reaction (PCR) amplification reaction ， and DNA sequence analysis technology to the WD ATP7B pre-operation mutation detection. ATP7B gene detection results and liver degeneration gene mutation database were analyzed, comparing with the gender, age, clinical classification, copper biochemical index,analysis of genotypes and the correlation of clinical phenotypes. Results: The 7 cases showed different degree of liver damage in children with symptoms,including 1 case with nervous system symptoms,1 case with hemolytic anemia,1 case with kidney damage. Laboratory results showed that 7 cases of serum copper blue protein were significantly decreased,increased 24 hours urine copper,4 cases of children with positive K - F ring. ATP7B gene test results: 1 case of children did not detect the mutation, six mutations found: more than 6 cases underwent Arg778Leu(R778L)、Gly711Trp (G711W)、Asn127