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北京市自然科学基金(7092085)

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两个MODY2中国家系葡萄糖激酶基因杂合突变的研究被引量:6
2010年
目的寻找两个典型的MOIDY2家系的责任基因。方法抽提两个MODY2家系成员基因组DNA,PCR扩增、直接测序候选基因葡萄糖激酶(GCK)基因5′端、3′端非翻译区及1~10号外显子,确认突变。结果家系1中4人携带GCK基因杂合突变c.661G>A(E221K),先证者为MOIDY2,另2名突变携带者表现为糖调节受损(IGR),1名突变携带者血糖正常。家系2中2人携带GCK基因杂合突变c.771G>A(W257ter),先证者为MOIDY2,另1名突变携带者表现为IGR。在这些患者中,饮食控制和增强运动能收到良好效果。结论 GCK基因突变c.661G>A(E221K)和c.771G>A(W257ter)可能是两个MOIDY2家系的主要致病基因,其中c.771G>A(W257ter)是一个新发现的突变位点。
刁呈明萨仁图雅肖新华孙晓方茅李莉张茜李文慧于淼袁涛黎明向红丁王姮
关键词:基因葡萄糖激酶
胰岛素-胰岛素样生长因子代谢轴在胎儿生长发育中的作用
2011年
目的探讨胰岛素-胰岛素样生长因子(IGF)代谢轴在胎儿宫内生长发育中的作用。方法连续收集266名单胎足月新生儿基本资料,采用放免法检测脐血胰岛素和IGF水平。结果 (1)脐血胰岛素水平与出生体重、BMI、身长和胎盘重量均呈正相关(P<0.01)。(2)脐血IGF水平与出生体重、BMI、身长和胎盘重量均呈正相关(P<0.01)。(3)脐血胰岛素水平和IGF水平呈显著正相关(P<0.01)。结论脐血胰岛素、IGF水平可作为评价胎儿宫内生长发育情况的参考指标。
茅李莉肖新华刘英朱席琳孙晓方张茜李文慧于淼张化冰
关键词:脐血胰岛素胰岛素样生长因子宫内生长发育
糖原累积病Ⅰ b型1例的临床和分子遗传分析被引量:2
2011年
目的初步探讨1例糖原累积病Ⅰb型(GSDⅠb)患者的临床特点和致病基因,分析该疾病发生的分子遗传机制。方法收集患者临床资料,抽提患者外周血白细胞基因组DNA,通过多聚酶链反应扩增葡萄糖-6-磷酸酶转位酶基因SLC37A4的9个外显子,用DNA直接测序法确定其突变位点。结果患者临床表现及实验室检查完全符合GSDⅠb。经PCR测序发现SLC37A4基因第3外显子572位碱基C→T纯合突变(c.572 C>T),造成第191位的脯氨酸被亮氨酸替代(p.P191L),导致葡萄糖-6-磷酸转位酶活性下降。结论 SLC37A4基因突变导致的葡萄糖-6-磷酸转位酶结构改变是该GSDⅠb患者临床表现的分子遗传基础。P191L纯合突变在中国大陆的报道尚属首次。相信不久DNA突变分析将会成为糖原累积病Ⅰb型的主要确诊方法。
孙晓方陈适卢琳邱正庆肖新华
关键词:基因突变
The association between common genetic variation in the FTO gene and metabolic syndrome in Han Chinese被引量:8
2010年
Background Genome-wide association studies for type 2 diabetes mellitus (T2DM) identified FTO gene as a locus conferring increased risk for common obesity in many populations with European ancestry. However, the involvement of FTO gene in obesity or T2DM related metabolic traits has not been consistently established in Chinese populations. The objective of this study was to investigate the association of FTO genetic polymorphisms with metabolic syndrome (MetS) in Han Chinese. Methods We tested 41 FTO single nucleotide polymorphisms (SNPs) for association between FTO and MetS-related traits. There were a total of 236 unrelated subjects (108 cases and 128 controls), grouped according to the International Diabetes Federation (IDF) criteria. Results Of the 41 SNPs examined, only SNP rs8047395 exhibited statistical significance (P=-0.026) under a recessive model, after Bonferroni adjustment for multiple testing (OR 1.64, 95% CI 1.11-2.42; P=-0.014). The common distributions of this polymorphism among Chineseawith a minor allele frequency (MAF) of 36% in the control group versus 48% in the Met$ group--greatly improved our test power in a relatively small sample size for an association study. Previously identified obesity- (or T2DM-) associated FTO SNPs were less common in Hart Chinese and were not associated with MetS in this study. No significant associations were found between our FTO SNPs and any endophenotypes of MetS. Conclusions A more common risk-conferring variant of FTO for MetS was identified in Han Chinese. Our study substantiated that genetic variations in FTO locus are involved in the pathogenesis of MetS.
WANG TongHUANG YiXIAO Xin-huaWANG Duen-meiDIAO Cheng-mingZHANG FengXU Ling-lingZHANG Yong-biaoLI Wen-huiZHANG Li-liZHANG YunSUN Xiao-fangZHANG Qian
Protein causes hyperinsulinemia: a Chinese patient with hyperinsulinism/hyperammonaemia syndrome due to a glutamate dehydrogenase gene mutation
2010年
Glucose is derived from three sources: intestinal absorption, glycogenolysis, and gluconeogenesis.Hypoglycemia in child is often attributed to depletion of glycogen stores. However, recently, congenital hyperinsulinism becomes an important cause of hypoglycaemia in early infancy.
CHEN ShiXIAO Xin-huaDIAO Cheng-mingTONG An-liWANG OuQIU Zheng-qingYU KangWANG Tong
关键词:HYPERINSULINEMIAHYPOGLYCEMIA
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