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目的分析并确定一例Crigler-Najjar综合征Ⅱ型(CN-Ⅱ)患儿的尿苷二磷酸葡萄糖醛酸转移酶1A1(UGT1A1)基因突变,并进行文献复习,为此病的诊断及早期治疗提供依据。方法对本院儿科2012年6月收治的一例持续高未结合胆红素血症的患儿提取基因组DNA,应用聚合酶链反应扩增UGT1A1所含5个外显子以及外显子与内含子连接区域进行DNA直接测序。结果先证者UGT1A1基因发现第1外显子第211位的鸟嘌呤(G)突变为腺嘌呤(A),导致甘氨酸(Gly)变为精氨酸(Arg),即c.211G>A(p.G71R);第5外显子第1456位的胸腺嘧啶(T)突变为鸟嘌呤(G),导致酪氨酸(Tyr)变为天门冬氨酸(Asp),即c.1456T>G(p.Y486D),先证者G71R和Y486D复合杂合突变,确诊为CN-Ⅱ。结论临床上高度怀疑Crigler-Najjar综合征时,使用分子遗传学方法快速明确诊断,可以为本患儿家庭提供准确的遗传咨询及产前诊断。
OBJECTIVE: To analyze and determine the mutation of UGT1A1 gene in a patient with Crigler-Najjar syndrome type Ⅱ (CN-Ⅱ) and review the literature for the diagnosis and early treatment of this disease in accordance with. Methods Genomic DNA was extracted from a pediatric patient with persistent hyperbilirubinemia who was admitted to our hospital in June 2012. PCR was used to amplify the five exons contained in UGT1A1 as well as exons and introns Sub-junction region for DNA direct sequencing. Results The proband UGT1A1 gene was found to be mutated to adenine (G) at position 211 of exon 1, resulting in the conversion of Gly to Arg (c.211G> A ( p.G71R); the thymine (T) at position 1456 of exon 5 was mutated to guanine (G), resulting in the change of tyrosine (Tyr) to asparagine (Asp), ie c.1456T> G (p.Y486D), proband G71R and Y486D compound heterozygous mutation, diagnosed as CN-Ⅱ. Conclusions Clincal diagnosis of Crigler-Najjar syndrome, the rapid use of molecular genetics diagnosis, the family can provide accurate genetic counseling and prenatal diagnosis.