摘要
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 the double mutations of F161S/EX6-96A→G in Kazak Phenylketonuria（PKU）. [Methods] Single strand conformation polymorphism （SSCP） essay and sequence analysis of the PCR product were used to ascertain the gene mutation. [Result] Single strand conformation polymorphism （SSCP） essay used to screen exons 3, exons 5, exons 6, exons 7, exons 11 and exons 12 of the patient, we find the differences in SSCP electrophoresis strips of the exons 5 and exons 6 compare to the normal. It is demonstrated from separating sequencing result to the two areas that A→T mutation happened on the site 482 of the patient＇s exons 5 cDNA. It is F161S mutation. Meanwhile exons 6 has a A→T mutation on the site 611 of the cDNA. It is EX6-96A→G mutation. The patient is a double mutation heterozygotes of the F161S/EX6-96A→G. [Conclusion] It is the first report for the double mutation heterozygotes of the F161S/EX6-96A→G in Kazak PKU.
出处
《中国现代医学杂志》
CAS
CSCD
北大核心
2008年第12期1696-1698,1702,共4页
China Journal of Modern Medicine
关键词
苯丙酮尿症
基因突变
单链构象多态性
序列测定
phenylketonuria
gene mutation
single strand conformation polymorphism
sequence analysis
