摘要
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 investigate the molecular genetic mechanism of a patient with glycogen storage disease la. Methods Genomic DNA were abstracted from the blood of the patient, his parents, his elder sister and healthy control. The 5 exons of glucose -6 - phosphatase gene were amplified with poly-merase chain reaction and sequenced to determine the mutation sites. The corresponding exon of the parents and his elder sister were also amplified and sequenced to determine the zygosity of the patients and his old-ensister and the source of the gene variances. Results The analysis revealed that the patient was a ho-mozygote of G to T transversion at the nucleotide 727 in exon 5 ( 727G→T). The parents and his elder sister are heterozygous of 727G→T mutation. Conclusion The DNA analysis is helpful for confirmation of the diagnosis of glycogen storage disease Ia and 727G→T in exon 5 may be a prevalent mutation causing glycogen storage disease I a in Chinese.
出处
《上海第二医科大学学报》
CSCD
2003年第5期409-412,共4页
Acta Universitatis Medicinalis Secondae Shanghai
