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目的鉴定新疆哈萨克族苯丙酮尿症(PKU)F161S和EX6-96A→G双重突变基因杂合子。方法应用PCR及单链构象多态性(SSCP)分析技术结合基因序列测定方法确定突变类型。结果对患者PAH基因第3、5、6、7、11、12外显子分别进行SSCP实验筛检,在外显子5和外显子6中,均发现患者的SSCP电泳条带位置与正常对照不同,遂对患者的这两个外显子基因区域分别测序,结果显示:在外显子5中cDNA第482位发生了T→C突变,是F161S型基因突变,而外显子6则在cDNA第611位发生了A→G突变,是EX6-96A→G型基因突变,即患者为F161S/EX6-96A→G型双重突变基因杂合子。结论在新疆哈萨克族中检出的PKUF161S/EX6-96A→G型双重突变基因杂合子,为本民族首次报道。
Objective To identify heterozygous heterozygous loci of PKU F161S and EX6-96A → G double mutant in Kazak of Xinjiang. Methods The mutation types were determined by PCR and single-strand conformation polymorphism (SSCP) analysis combined with gene sequencing. Results The SSCP experiments were carried out on exon 3, 5, 6, 7, 11 and 12 of PAH gene in patients respectively. The location of SSCP bands in exon 5 and exon 6 were found to be similar to that of normal controls , The two exon gene regions of patients were sequenced respectively. The results showed that T → C mutation occurred at the 482th position of cDNA in exon 5, which was a mutation of F161S gene, while exon 6 was in the cDNA A → G mutation occurs at the 611th and is an EX6-96A → G gene mutation, that is, the patient is a heterozygous F161S / EX6-96A → G double mutant gene. Conclusion The heterozygote of PKUF161S / EX6-96A → G double mutant gene detected in Kazak ethnic group in Xinjiang was first reported by our nation.