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目的 研究1例糖原累积病Ⅰa型患者发病的分子遗传学机制。方法 从全血中抽提患者及其父母、姐姐和正常人基因组DNA,通过多聚酶链反应扩增葡萄糖-6-磷酸酶(G6Pase)基因的5个外显子,用DNA直接测序法确定其突变位点;测定患者父母亲及其姐姐的相应序列,确定突变的遗传来源。结果 患者G6Pase基因外显子5发生单个碱基纯合突变,突变碱基位于序列第727位,由G转变为T,造成剪切位点突变。患者父母亲和姐姐的G6Pase基因外显子5均发生727G→T杂合突变。结论 糖原累积病Ⅰa型可直接进行DNA分析以明确诊断,葡萄糖-6-磷酸酶外显子5的727G→T突变的发生在中国人中的发生率有待进一步研究。
Objective To study the molecular genetic mechanism of a type Ⅰ glycogen storage disease. Methods Genomic DNA was extracted from whole blood of patients, their parents, elder sisters and normal individuals. Five exons of glucose-6-phosphatase (G6Pase) gene were amplified by polymerase chain reaction and their mutations were determined by DNA direct sequencing Site; determination of the patient’s parents and their sister’s corresponding sequence, to determine the genetic origin of the mutation. Results A single base homozygous mutation occurred in exon 5 of G6Pase gene. The mutation base was located at the 727th position of the sequence, which was changed from G to T, resulting in the mutation of the cleavage site. 727G → T heterozygous mutation occurred in exon 5 of G6Pase gene in both parents and sister. Conclusions Genotype Ⅰa of glycogen storage disease can be directly analyzed by DNA to confirm the diagnosis. The incidence of 727G → T mutation in exon 5 of glucose-6-phosphatase remains to be further studied in Chinese.