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目的对一个以肝肿大为主要表现的Ⅰa型糖原累积病(GSDⅠa)家系进行基因突变研究和分析。方法收集GSDⅠa患者家系资料和亲属外周血标本,PCR法扩增葡萄糖-6-磷酸酶(G-6- Pase)基因的5个外显子,并测序比对基因序列的变化。结果结合临床表现、肝组织学检查及家系分析,患者诊断明确。基因结构分析显示,患者G-6-Pase基因5号外显子密码727G→T/1071G→A(A331E)复合突变。在其父辈家系中存在5号外显子727G→T杂合子突变.导致剪切点突变;其母辈家系中存在5号外显子1071G→A杂合子突变,导致第331位密码子编码的A转变为E。结论患者的祖父及外祖母为首发突变者。727G-T/1071G→A(A331E)复合突变是该家系发病的分子生物学其础。
Objective To study and analyze the gene mutation in a type Ⅰ glycogen storage disease (GSDⅠa) family with hepatomegaly as the main manifestation. Methods The pedigree data and the peripheral blood samples from relatives of patients with GSDⅠa were collected. Five exons of G-6-Pase gene were amplified by PCR, and the sequence of the gene was sequenced. Results Combined with clinical manifestations, liver histology and pedigree analysis, patients diagnosed clear. Gene structure analysis showed that the exon code of G-6-Pase gene in exon 5 was 727G → T / 1071G → A (A331E). In its pedigree, Exon 5 exon 727G → T heterozygous mutation was found, which resulted in a point mutation at the cleavage site. Mutation of 1071G → A heterozygosity on exon 5 in its pedigree resulted in A transition of codon 331 E. Conclusion The patient’s grandfather and grandmother as the first mutation. The combined mutation of 727G-T / 1071G → A (A331E) is the basis of the molecular biology of the pedigree.