Objective: To identify the mutations of iduronate-2-sulfatase (IDS) gene, to reveal its mutation features, and to establish a basis for genetic counseling and prenatal gene diagnosis of Hunter syndrome. Methods: Urine...Objective: To identify the mutations of iduronate-2-sulfatase (IDS) gene, to reveal its mutation features, and to establish a basis for genetic counseling and prenatal gene diagnosis of Hunter syndrome. Methods: Urine glycosaminoglycans (GAGs) assay, PCR and DNA sequencing were performed to detect mutation of IDS gene of the patient and his parents. Results: The result showed that the patient was: DS(++), HS(++), KS(-), CS(-), and that both of his parents were negative. A frame-shift deletion mutation (1062 del 16) was identified in exon 7 of the patient's IDS gene. His parents' genotypes were normal. Conclusion:The patient's mutation was not inherited by his parents but a novel one. The mutation probably altered the primary structure and tertiary structure of IDS enzyme protein remarkably and lowered the activity of IDS enzyme greatly. Therefore it is supposed to be the direct cause of the disorder.展开更多
目的探讨血管紧张素Ⅱ1型受体(AT1R)基因多态性与代谢综合征(MS)的关系。方法用聚合酶链反应(PCR)方法检测汉族MS患者109例,汉族对照组118例,东乡族MS患者104例,东乡族对照113例AT1R基因多态性,测量血压,检测血脂、血糖,分析其关系。结...目的探讨血管紧张素Ⅱ1型受体(AT1R)基因多态性与代谢综合征(MS)的关系。方法用聚合酶链反应(PCR)方法检测汉族MS患者109例,汉族对照组118例,东乡族MS患者104例,东乡族对照113例AT1R基因多态性,测量血压,检测血脂、血糖,分析其关系。结果 4组AC基因型频率汉族MS组(10.1%)、汉族对照组(11.1%)、东乡族MS组(13.4%)、东乡族对照组(19.5%)(P>0.05);汉族对照组舒张压(DBP)AC基因型(89.0±5.7)mmHg(1 mmHg=0.133 kPa)vs AA基因型(84.0±6.0)mmHg(P<0.05);东乡族代谢综合征组收缩压(SBP)AC基因型(180.0±13.6)mmHg vs AA基因型(150.7±11.6)mmHg(P<0.05);东乡族对照组SBP AC基因型(131.7±11.9)mmHg vs AA基因型(120.4±23.1)mmHg(P<0.01)。结论汉族与东乡族AT1R基因A1166/C多态性与代谢综合征无关;进一步提示AT1R基因A1166/C多态性是原发性高血压的遗传因素。展开更多
基金Project partly supported by the Ph.D. Program of the National Edu-cational Committee (No. 2000044)the Chinese Medical Board(2003), China
文摘Objective: To identify the mutations of iduronate-2-sulfatase (IDS) gene, to reveal its mutation features, and to establish a basis for genetic counseling and prenatal gene diagnosis of Hunter syndrome. Methods: Urine glycosaminoglycans (GAGs) assay, PCR and DNA sequencing were performed to detect mutation of IDS gene of the patient and his parents. Results: The result showed that the patient was: DS(++), HS(++), KS(-), CS(-), and that both of his parents were negative. A frame-shift deletion mutation (1062 del 16) was identified in exon 7 of the patient's IDS gene. His parents' genotypes were normal. Conclusion:The patient's mutation was not inherited by his parents but a novel one. The mutation probably altered the primary structure and tertiary structure of IDS enzyme protein remarkably and lowered the activity of IDS enzyme greatly. Therefore it is supposed to be the direct cause of the disorder.
文摘目的探讨血管紧张素Ⅱ1型受体(AT1R)基因多态性与代谢综合征(MS)的关系。方法用聚合酶链反应(PCR)方法检测汉族MS患者109例,汉族对照组118例,东乡族MS患者104例,东乡族对照113例AT1R基因多态性,测量血压,检测血脂、血糖,分析其关系。结果 4组AC基因型频率汉族MS组(10.1%)、汉族对照组(11.1%)、东乡族MS组(13.4%)、东乡族对照组(19.5%)(P>0.05);汉族对照组舒张压(DBP)AC基因型(89.0±5.7)mmHg(1 mmHg=0.133 kPa)vs AA基因型(84.0±6.0)mmHg(P<0.05);东乡族代谢综合征组收缩压(SBP)AC基因型(180.0±13.6)mmHg vs AA基因型(150.7±11.6)mmHg(P<0.05);东乡族对照组SBP AC基因型(131.7±11.9)mmHg vs AA基因型(120.4±23.1)mmHg(P<0.01)。结论汉族与东乡族AT1R基因A1166/C多态性与代谢综合征无关;进一步提示AT1R基因A1166/C多态性是原发性高血压的遗传因素。
