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HNF1A mutation in a Thai patient with maturity-onset diabetes of the young: A case report 被引量:1
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作者 Nattachet Plengvidhya Watip Tangjittipokin +2 位作者 Nipaporn Teerawattanapong Tassanee Narkdontri Pa-thai Yenchitsomanus 《World Journal of Diabetes》 SCIE CAS 2019年第7期414-420,共7页
BACKGROUND Maturity-onset diabetes of the young(MODY)is the most common form of monogenic diabetes.The disease is transmitted in autosomal dominant mode and diabetes is usually diagnosed before age 25 year.MODY 3 is c... BACKGROUND Maturity-onset diabetes of the young(MODY)is the most common form of monogenic diabetes.The disease is transmitted in autosomal dominant mode and diabetes is usually diagnosed before age 25 year.MODY 3 is caused by mutation of hepatocyte nuclear factor(HNF)1A genes and is the most common MODY subtype.Diagnosis of MODY 3 is crucial since glycemic control can be accomplished by very low dose of sulfonylurea.In this report we described a Thai MODY 3 patient who had excellence plasma glucose control by treating with glicazide 20 mg per day and insulin therapy can be discontinued.CASE SUMMARY A 31-year-old woman was diagnosed diabetes mellitus at 14 years old.The disease was transmitted from her grandmother and mother compatible with autosomal dominant inheritance.Sanger sequencing of proband’s DNA identified mutation of HNF1A at codon 203 which changed amino acid from arginine to cysteine(R203C).This mutation was carried only by family members who have diabetes.The patient has been treated effectively with a combination of oral hypoglycemic agents and must include a very low dose of glicazide(20 mg/d).Insulin therapy was successfully discontinued.CONCLUSION We demonstrated a first case of pharmacogenetics in Thai MODY 3 patient.Our findings underscore the essential role of molecular genetics in diagnosis and guidance of appropriate treatment of diabetes mellitus in particular patient. 展开更多
关键词 ORAL SULFONYLUREAS maturity-onset diabetes of the young HNF1A Case report
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Analysis of the glucokinase gene in Iranian families with maturity onset diabetes of the young
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作者 Meisam Javadi Houshang Rafatpanah +4 位作者 Seyed Morteza Taghavi Jalil Tavakolafshari Rashin Ganjali Narges Valizadeh Seyedeh Seddigheh Fatemi 《Journal of Diabetes Mellitus》 2013年第4期192-198,共7页
Non insulin dependent diabetes mellitus (NIDDM) as a most common form of diabetes is a major public health problem;there is a subgroup of NIDDM patients who develop the disease at an early age and show a dominant mode... Non insulin dependent diabetes mellitus (NIDDM) as a most common form of diabetes is a major public health problem;there is a subgroup of NIDDM patients who develop the disease at an early age and show a dominant mode of inheritance. This type is nominates Maturity onset diabetes of the young (MODY). The prevalence of MODY is difficult to access, and patients with MODY genes mutations are often identified during routine screening for other purposes. MODY2 was linked to glucokinase gene (GCK) mutations, and accounted for 8% to 56% of MODY, with the highest prevalence found in the southern Europe. The aim of this study was to examine the prevalence and nature of mutations in GCK gene in Iranian paients. We have screened GCK mutations by polymerase chain reaction (PCR);single stranded conformation polymorphism (SSCP) technique in 12 Iranian families with clinical diagnosis of MODY, included 30 patients (8 males and 22 females) and their 21 family members. PCR products with abnormal mobility in denaturing gradient gel electrophoresis (DGGE) were directly sequenced. We identified 6 novel mutations in GCK gene in Iranian families (corresponding to 36.6% prevalence). Our findings and the last study on MODY1 highlight that in addition to GCK, other MODY genes such as MODY3 and MODYX may play a significant role in diabetes characterized by monogenic autosomal dominant transmission. There is an important point that the genetic recognation can be used to pre-symptomatically identify family members at risk for developing MODY. 展开更多
关键词 MATURITY onset diabetes of the young 2 (MODY2) GLUCOKINASE (GCK) Mutation SSCP PCR
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Risk factors in patients with type 2 diabetes in Bengaluru: A retrospective study 被引量:1
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作者 Jagadeesha Aravinda 《World Journal of Diabetes》 SCIE CAS 2019年第4期241-248,共8页
BACKGROUND Risk factors such as hereditary, ecological, and metabolic are interrelated and contribute to the development of type 2 diabetes mellitus. Family history(FH) of diabetes mellitus, age, obesity, and physical... BACKGROUND Risk factors such as hereditary, ecological, and metabolic are interrelated and contribute to the development of type 2 diabetes mellitus. Family history(FH) of diabetes mellitus, age, obesity, and physical inactivity are some of the risk factors for the development of type 2 diabetes.AIM To study various aetiological determinants and risk factors for type 2 diabetes in Bangalore, India. This retrospective study examined questionnaire from patients attending the Diabetes Clinic.METHODS Data on various parameters were obtained through a questionnaire from 533 patients on the first visit to the diabetes clinic. Data regarding various aetiological determinants and risk factors viz.: Genetic risk factor and few modifiable risk factors were collected. Chi-squared test was used for statistical analysis.RESULTS A higher incidence of type 2 diabetes in males and younger population was observed in Bangalore, India. Obesity and FH were significant risk factors for not only type 2 diabetes but also early onset of diabetes. In addition, maternal history of type 2 diabetes and consanguinity increased incidence of early onset type 2 diabetes.CONCLUSION Risk factors such as obesity and FH(maternal history of type 2 diabetes) and consanguinity may play an important role in screening of family members of type 2 diabetes patients which may lead to early intervention and reduced risk of subsequent complications. Moreover, susceptible population can be counselled for the management of the type 2 diabetes including periodic investigation of blood glucose levels and lifestyle changes. 展开更多
关键词 Type 2 diabetess MELLITUS young onset diabetes Family history CONSANGUINITY diabetes risk factors OBESITY
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Age at diagnosis of type 2 diabetes and cardiovascular risk factor profile:A pooled analysis 被引量:2
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作者 Mary M Barker Francesco Zaccardi +13 位作者 Emer M Brady Gaurav S Gulsin Andrew P Hall Joseph Henson Zin ZinHtike Kamlesh Khunti Gerald P McCann Emma L Redman David R Webb Emma G Wilmot Tom Yates Jian Yeo Melanie J Davies Jack A Sargeant 《World Journal of Diabetes》 SCIE 2022年第3期260-271,共12页
BACKGROUND The diagnosis of type 2 diabetes(T2D)in younger adults,an increasingly common public health issue,is associated with a higher risk of cardiovascular complications and mortality,which may be due to a more ad... BACKGROUND The diagnosis of type 2 diabetes(T2D)in younger adults,an increasingly common public health issue,is associated with a higher risk of cardiovascular complications and mortality,which may be due to a more adverse cardiovascular risk profile in individuals diagnosed at a younger age.AIM To investigate the association between age at diagnosis and the cardiovascular risk profile in adults with T2D.METHODS A pooled dataset was used,comprised of data from five previous studies of adults with T2D,including 1409 participants of whom 196 were diagnosed with T2D under the age of 40 years.Anthropometric and blood biomarker measurements included body weight,body mass index(BMI),waist circumference,body fat percentage,glycaemic control(HbA1c),lipid profile and blood pressure.Univariable and multivariable linear regression models,adjusted for diabetes duration,sex,ethnicity and smoking status,were used to investigate the association between age at diagnosis and each cardiovascular risk factor.RESULTS A higher proportion of participants diagnosed with T2D under the age of 40 were female,current smokers and treated with glucose-lowering medications,compared to participants diagnosed later in life.Participants diagnosed with T2D under the age of 40 also had higher body weight,BMI,waist circumference and body fat percentage,in addition to a more adverse lipid profile,compared to participants diagnosed at an older age.Modelling results showed that each one year reduction in age at diagnosis was significantly associated with 0.67 kg higher body weight[95%confidence interval(CI):0.52-0.82 kg],0.18 kg/m^(2) higher BMI(95%CI:0.10-0.25)and 0.32 cm higher waist circumference(95%CI:0.14-0.49),after adjustment for duration of diabetes and other confounders.Younger age at diagnosis was also significantly associated with higher HbA1c,total cholesterol,low-density lipoprotein cholesterol and triglycerides.CONCLUSION The diagnosis of T2D earlier in life is associated with a worse cardiovascular risk factor profile,compared to those diagnosed later in life. 展开更多
关键词 Type 2 diabetes mellitus Early-onset adult type 2 diabetes Age of onset Cardiovascular risk young adults Glycaemic control OBESITY
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转录因子HNF1α基因c.493T>C位点突变对其蛋白质水平的影响
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作者 梁淑杰 彭乙华 +3 位作者 雷佳红 贾艾敏 蒋红 蔡燕 《遗传》 CAS CSCD 北大核心 2024年第3期256-262,共7页
肝细胞核因子1α(hepatocyte nuclear factor 1α,HNF1α)作为一种转录因子在维持胰腺β细胞功能、肝脏脂质代谢等过程中发挥着重要的调控作用。该基因突变是导致青少年起病的成人型糖尿病(maturity onset diabetes of the young,MODY)... 肝细胞核因子1α(hepatocyte nuclear factor 1α,HNF1α)作为一种转录因子在维持胰腺β细胞功能、肝脏脂质代谢等过程中发挥着重要的调控作用。该基因突变是导致青少年起病的成人型糖尿病(maturity onset diabetes of the young,MODY)3型的致病原因,目前已报道的该基因的突变位点众多,如P291fsinsC、P112L等常见的突变位点,但其具体的分子机制尚不清楚。本研究对前期工作中发现的1例携带有HNF1α基因c.493T>C位点突变的MODY3患者,通过应用Mutation Surveyor软件分析突变位点的致病性,构建HNF1α野生型和突变型真核表达质粒,采用Western blot检测两种质粒表达的HNF1α蛋白质的量和稳定性变化,结果发现Mutation Surveyor软件分析提示c.493T>C位点突变可能为致病性变异基因,Western blot显示突变型真核质粒表达的HNF1α蛋白质的量和稳定性均明显降低,差异均具有统计学意义(P<0.05)。上述结果表明c.493T>C(p.Trp165Arg)变异显著影响HNF1α的表达量及稳定性,可能为其导致疾病发生的原因,为后续深入探究MODY3的分子致病机制提供了新的方向。 展开更多
关键词 MODY HNF1α 基因突变
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以酮症酸中毒起病的青少年成年型糖尿病6型1例
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作者 刘丽芳 张芬 《中国医药科学》 2024年第12期195-198,共4页
目的探讨青少年以酮症酸中毒的成人型糖尿病6型(MODY6)的临床特征、发病机制、诊断、检查以及治疗。方法报道鄂州市中心医院收治急诊转内分泌科1例以酮症酸中毒起病的MODY6患者,基于血糖、血酮体、生化、血气分析等指标的检查结果,给予... 目的探讨青少年以酮症酸中毒的成人型糖尿病6型(MODY6)的临床特征、发病机制、诊断、检查以及治疗。方法报道鄂州市中心医院收治急诊转内分泌科1例以酮症酸中毒起病的MODY6患者,基于血糖、血酮体、生化、血气分析等指标的检查结果,给予正规补液、降血糖、纠正酸中毒等治疗,并结合相关文献进行分析。结果该例患者酮症酸中毒纠正后改用胰岛素治疗,出院门诊随访,胰岛功能进一步恢复,停用胰岛素,单用二甲双胍治疗后血糖控制平稳。结论临床中起病的青少年患者,不论其有无糖尿病家族史,均应对其进行深入分型诊断以避免误诊、漏诊,这不仅可为遗传咨询提供重要的依据,还对患者及其家庭具有重要意义。 展开更多
关键词 糖尿病酮症酸中毒 青少年 成人起病型糖尿病6型 基因突变
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A Family of GCK-MODY, About 02 Cases and Review of the Literature
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作者 Malad Mohamed Tadlaoui Abderrahman +1 位作者 Riznat Malak Guerboub Ahmed Anas 《Open Journal of Endocrine and Metabolic Diseases》 2024年第7期135-142,共8页
Positive diagnosis of diabetes is currently easy, but typing diagnosis of diabetes still remains a challenge for every clinician. It is currently accepted that types of diabetes apart from T1D and T2D can expand and i... Positive diagnosis of diabetes is currently easy, but typing diagnosis of diabetes still remains a challenge for every clinician. It is currently accepted that types of diabetes apart from T1D and T2D can expand and include several forms of diabetes mellitus;From gestational diabetes, to all forms of secondary diabetes mellitus due to medications, intercurrent disease but also infections, and finally monogenic diabetes, whose diagnosis is not always easy to establish. The aim is to reveal the difficulties that clinicians may face in the process of etiological diagnosis regarding the suspicion of this type of monogenic diabetes, through the study of 2 cases, in which MODY type diabetes was suspected. Today we recognize 17 different genetic mutations that can all lead to MODY diabetes, the most common mutation of which is GCK coding for the glucokinase, the real sensor of pancreatic Beta-cell. The truly stable glycemic profile, with an A1C ranging between 7% and 7.5%, confirmed with a TIR always above 70% and a good MAGE, but also the rarity of degenerative complications and pharmacological therapeutic abstention which can last for years, these would be the most striking clinical characteristics of a GCK MODY. 展开更多
关键词 Maturity onset diabetes of the young diabetes Typing Glucokinase GCK Mutation
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青少年起病的成人型糖尿病3型合并5型1例并文献复习
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作者 李丽娟 龚柳平 +3 位作者 郑爱琳 杨巧玲 蒲丹岚 张颖 《中南大学学报(医学版)》 CAS CSCD 北大核心 2024年第6期848-855,共8页
报告1例青少年起病的成人型糖尿病(maturity-onset diabetes of the young,MODY)3型(MODY3)合并5型(MODY5)患者的临床特征、诊断及治疗,并复习相关文献。利用MODY(1~14型)基因外显子二代测序和Sanger测序验证MODY患者及其母亲,结合临床... 报告1例青少年起病的成人型糖尿病(maturity-onset diabetes of the young,MODY)3型(MODY3)合并5型(MODY5)患者的临床特征、诊断及治疗,并复习相关文献。利用MODY(1~14型)基因外显子二代测序和Sanger测序验证MODY患者及其母亲,结合临床表型及基因检测结果,该患者诊断为MODY3合并MODY5,给予胰岛素及利格列汀治疗,观察血糖变化。临床医师应提高对MODY临床表型的认识,对于合并先天性胰腺和肾脏发育不全、高密度脂蛋白胆固醇升高,无自发酮症、胰岛素分泌缺陷,胰岛自身抗体阴性,无明显胰岛素抵抗,非肥胖的青少年糖尿病患者应行基因检测以筛查MODY,精准诊断并予以个体化治疗将有助于血糖水平达标及改善生活质量,并指导优化生育。 展开更多
关键词 青少年起病的成人型糖尿病 肝细胞核因子1α 肝细胞核因子1β 肾囊肿 胰腺发育不全
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Novel variants in the hepatocyte nuclear factor-1-alpha gene in MODY and early onset NIDDM: Evidence for a mutational hotspot in exon 5
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作者 Chaitry Ghosal Aditi Sen +5 位作者 Shuvodip Chowdhury Kaushik Pandit Surajita Banerjee Suman Kalyan Paine Subhankar Chowdhury Basudev Bhattacharya 《Open Journal of Preventive Medicine》 2012年第1期116-122,共7页
The disorder, Maturity Onset of Diabetes of the young (MODY) is a monogenic form of Non-Insulin dependent Diabetes Mellitus (NIDDM), characterized by autosomal dominant mode of inheritance and onset is usually before ... The disorder, Maturity Onset of Diabetes of the young (MODY) is a monogenic form of Non-Insulin dependent Diabetes Mellitus (NIDDM), characterized by autosomal dominant mode of inheritance and onset is usually before 25 years of age. Clinical studies of subjects with the different forms of MODY indicate that each is associated with a different defect in the normal pattern of glucose stimulated insulin secretion. MODY can result from mutations in any one of the six different genes, one of which encodes the glycolytic enzyme Glucokinase, associated with MO-DY2 and the other five encode transcription factors HNF4-alpha associated with MODY 1, HNF1-alpha associated with MODY 3, IPF with MODY 4, HNF1-Beta with MODY 5 and NeuroD1 with MO-DY6. Studies related to mutations in the MODY genes have led to a better understanding of the genetic causes of the Beta cell dysfunction as genetic factors plays a great role in this disorder. Objective: To investigate the mutation pattern in the different transcription factor genes with special reference to HNF1-alpha which are highly penetrant with 63% mutation carriers manifesting clinical diabetes by the age of 25 years. Hence study of mutation pattern in this gene is essential in our population i.e. Eastern Indian population. Our study is focused on HNF1-alpha related to MODY 3, which is the most common one. Methods: In our study enzyme amplification (PCR) of the 10 target exons of the said gene with simultaneous mutation detection in them by PCR-SSCP (Polymerase chain reaction-single strand conformational polymorphism) reaction analysis method was attempted by screening of exon 1 - 10 with respect to normal healthy controls without Diabetes Mellitus. The nature of the specific mutations was also determined by sequencing. Result: It was observed that maximum number of variations exist in exon 5 of HNF1-alpha gene which may be referred to as “Mutational Hotspot” in our Eastern Indian population. Conclusions: Since maximum number of variations exists in exon 5 of the said gene, hence one can initially go for exon5 followed by other exons, while screening for pathogenic MODY 3 mutations in the responsible gene by PCR-SSCP method. 展开更多
关键词 Maturity onset diabetes of young PCR-SSCP HNF1-Alpha Non Insulin DEPENDANT diabetes MELLITUS
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胰岛素受体底物2基因突变可能与青少年起病的成人型糖尿病有关:一例报道及其遗传学分析 被引量:1
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作者 任玉梅 许敏 +2 位作者 叶梅蕾 章秋 胡红琳 《中国全科医学》 CAS 北大核心 2023年第18期2301-2305,共5页
青少年起病的成人型糖尿病(MODY)是一类以胰岛β细胞功能障碍为特征的、有较高遗传异质性的单基因遗传糖尿病。截至2022年8月,已发现14种明确的MODY致病基因。本文报道了1例疑似MODY患者,通过外显子组测序鉴定了1个胰岛素受体底物2(IRS2... 青少年起病的成人型糖尿病(MODY)是一类以胰岛β细胞功能障碍为特征的、有较高遗传异质性的单基因遗传糖尿病。截至2022年8月,已发现14种明确的MODY致病基因。本文报道了1例疑似MODY患者,通过外显子组测序鉴定了1个胰岛素受体底物2(IRS2)基因突变,并在患者11名家系成员中进行了验证,提出IRS2基因是一个新的MODY候选致病基因,为MODY的诊断和治疗提供更多的参考资料。 展开更多
关键词 糖尿病 青少年起病的成人型糖尿病 胰岛素受体底物2 过氧化物酶体增殖物激活受体 基因突变 基因诊断 系谱分析
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ATP结合盒转运蛋白亚家族C成员8基因突变相关疾病研究进展
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作者 聂辰宇 吕晓宇 侯新国 《中国医学前沿杂志(电子版)》 CSCD 2023年第12期42-49,共8页
ATP结合盒转运蛋白亚家族C成员8 (ATP binding cassette subfamily C member 8,ABCC8)基因编码磺脲受体1 (sulfonylurea receptor 1,SUR1)亚基,该亚基是腺苷三磷酸(adenosine triphosphate,ATP)敏感性钾离子通道(ATP-sensitive potassiu... ATP结合盒转运蛋白亚家族C成员8 (ATP binding cassette subfamily C member 8,ABCC8)基因编码磺脲受体1 (sulfonylurea receptor 1,SUR1)亚基,该亚基是腺苷三磷酸(adenosine triphosphate,ATP)敏感性钾离子通道(ATP-sensitive potassium channel,KATP通道)的一部分。在胰岛β细胞中,SUR1亚基通过影响KATP通道调控胰岛素分泌。ABCC8的致病突变主要包括激活和失活突变两种类型,不同类型、相同类型不同结构域的突变引起疾病的临床表现、生化特征都不尽相同。对典型的临床表现及基因突变特点之间关系的深入认识有助于对该类疾病的精准诊断与治疗。 展开更多
关键词 ABCC8基因 SUR1 新生儿糖尿病 先天性高胰岛素血症 青少年起病的成人型糖尿病
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Identification of four novel mutations in the HNF-1A gene in Chinese early-onset and/or multiplex diabetes pedigrees 被引量:6
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作者 YANG Zhen WU Song-hua ZHENG Tai-shan LU Hui-juan XIANG Kun-san 《Chinese Medical Journal》 SCIE CAS CSCD 2006年第13期1072-1078,共7页
Background Mutations in the hepatocyte nuclear factor-lA gene cause the type 3 form of maturity-onset diabetes of the young (MODY3). This study was undertaken to determine mutations and sequence variations of the HN... Background Mutations in the hepatocyte nuclear factor-lA gene cause the type 3 form of maturity-onset diabetes of the young (MODY3). This study was undertaken to determine mutations and sequence variations of the HNF-1A gene in Chinese with familial early-onset and/or multiplex diabetes mellitus. 展开更多
关键词 maturity-onset diabetes of the young hepatocyte nuclear factor-1A gene direct sequencing
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青少年的成人起病型糖尿病家系NEUROD1基因突变的筛查与功能解析
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作者 张娟 葛晓旭 +7 位作者 张荣 蒋伏松 蒋燕燕 李鸣 李甜甜 刘婵薇 陈亚婷 刘丽梅 《上海交通大学学报(医学版)》 CAS CSCD 北大核心 2023年第10期1255-1261,共7页
目的·筛查青少年的成人起病型糖尿病(maturity-onset diabetes of the young,MODY)家系中NEUROD1基因突变,分析突变与中国人MODY6发病的相关性及其潜在的致病机制。方法·采用PCR-直接测序法对96例GCK/MODY2、HNF1A/MODY3、HNF... 目的·筛查青少年的成人起病型糖尿病(maturity-onset diabetes of the young,MODY)家系中NEUROD1基因突变,分析突变与中国人MODY6发病的相关性及其潜在的致病机制。方法·采用PCR-直接测序法对96例GCK/MODY2、HNF1A/MODY3、HNF1B/MODY5突变阴性的中国MODY先证者进行NEUROD1突变筛查,同时比较96例MODY先证者与100例非糖尿病对照者NEUROD1基因变异的基因型频率。采用从头建模法构建NEUROD1蛋白野生型和突变体的3D结构,采用双荧光素酶报告基因系统检测野生型和突变体蛋白对胰岛素基因转录活性的影响。结果·在一个MODY家系中发现NEUROD1基因杂合错义突变Glu59Gln (NM_002500.5,c.175G>C)。3D结构分析发现,该突变将野生型中带负电荷的Glu59转化为突变中不带电荷的Gln59,导致两个盐桥键Glu59-Arg54和Glu59-Lys88缺失,并形成一个新的氢键Gln59-Arg54。与野生型相比,Glu59Gln突变体的胰岛素基因转录活性下降36.3%(P<0.05)。与非糖尿病对照相比,96例MODY先证者中Ala45Thr (G-A)变异的AA+GA基因型频率显著升高(P=0.002)。结论·Glu59Gln突变改变了NEUROD1蛋白N端的分子构象,导致其胰岛素基因转录活性显著下降,是该家系突变携带者胰岛素分泌缺陷的原因。Ala45Thr变异与MODY6先证者糖尿病发病年龄的提前有关。 展开更多
关键词 青少年的成人起病型糖尿病 NEUROD1基因 MODY6 Glu59Gln突变 功能解析
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PDX1在糖尿病中的研究进展
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作者 黄丽红 王凤 乔永超 《华夏医学》 CAS 2023年第1期178-182,共5页
胰-十二指肠同源盒1基因(PDX1)是胰腺发育和胰岛素调控的关键基因。PDX1缺陷会抑制胰腺发育,导致高血糖。本文就PDX1的结构及其在胰岛β细胞分化、胰岛素合成与分泌调控中的作用与机制进行探讨,并就其与新生儿糖尿病、成人发病型糖尿病... 胰-十二指肠同源盒1基因(PDX1)是胰腺发育和胰岛素调控的关键基因。PDX1缺陷会抑制胰腺发育,导致高血糖。本文就PDX1的结构及其在胰岛β细胞分化、胰岛素合成与分泌调控中的作用与机制进行探讨,并就其与新生儿糖尿病、成人发病型糖尿病和2型糖尿病之间的关联进行阐述,以便为糖尿病的治疗提供新思路。 展开更多
关键词 胰-十二指肠同源盒1基因 新生儿糖尿病 成人发病型糖尿病 2型糖尿病
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中国早发2型糖尿病家系MODY 1-5基因测定 被引量:3
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作者 严晋华 沈云峰 +3 位作者 余秋琼 梁华 蔡梦茵 翁建平 《中山大学学报(医学科学版)》 CAS CSCD 北大核心 2009年第4期437-440,F0003,共5页
【目的】通过对早发2型糖尿病家系先证者进行直接测序,寻找中国人群中可能存在的青少年的成人发病型糖尿病(MODY)1-5基因突变。【方法】对19个早发2型糖尿病家系的先证者进行MODY1-5基因扩增和DNA直接测序。【结果】19个先证者未发现MOD... 【目的】通过对早发2型糖尿病家系先证者进行直接测序,寻找中国人群中可能存在的青少年的成人发病型糖尿病(MODY)1-5基因突变。【方法】对19个早发2型糖尿病家系的先证者进行MODY1-5基因扩增和DNA直接测序。【结果】19个先证者未发现MODY基因突变,但发现MODY1-5基因分别存在6、5、15、1、1种多态性。【结论】MODY相关基因突变具有种族异质性,MODY1-5基因突变不是该19个早发糖尿病家系的致病因素。 展开更多
关键词 早发2型糖尿病 基因突变 青少年的成人发病型糖尿病
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中国人青年发病的成年型糖尿病/2型糖尿病家系葡萄糖激酶和肝细胞核因子-1α基因缺陷的分子筛查 被引量:2
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作者 马立隽 卞茸文 +6 位作者 王华 陈家伟 金卫新 刘立 沈捷 华子春 柴建华 《南京医科大学学报(自然科学版)》 CAS CSCD 北大核心 2001年第6期476-480,F002,共6页
目的 :探索包含青年发病的成年型糖尿病 ( maturity- onset diabetes of the young,MODY)患者的 2型糖尿病家族中可能存在的 MODY基因的致病突变。方法 :选择 MODY基因中突变率最高的葡萄糖激酶 ( glucokinase,GCK,MODY2 )和肝细胞核因... 目的 :探索包含青年发病的成年型糖尿病 ( maturity- onset diabetes of the young,MODY)患者的 2型糖尿病家族中可能存在的 MODY基因的致病突变。方法 :选择 MODY基因中突变率最高的葡萄糖激酶 ( glucokinase,GCK,MODY2 )和肝细胞核因子- 1α( hepatic nuclear factor- 1α,HNF- 1α,MODY3 )基因的微卫星多态遗传标志 ,在一个包含 2名 MODY患者的中国人 2型糖尿病家系中进行连锁分析 ,对可能与疾病连锁的基因进行全基因外显子的突变筛查—— DNA序列直接测定以明确具体的碱基突变和所编码的氨基酸的改变。结果 :家系 5 0 0 0 1中 MODY3的最大 L OD( logarithm of odds)值达到 2 .3 75 93 0 (θ=0 .0 0 0 0 0 0 ) ,但未发现与MODY2连锁的依据。 DNA直接测序发现在家系 5 0 0 0 1中所有家族成员 MODY3基因外显子 7中存在一个杂合多态 Ser4 87Asn( AGC/ AAC) ,该多态在正常人中也可见到。结论 :GCK基因内或附近的基因变异不是本家系 2型糖尿病的主要致病原因 ;HNF- 1α基因的启动子和所有外显子内均未发现明确的致病突变 ,但无法否定内含子或其他调节区域的变异有可能的致病倾向 ;也不能排除HNF- 1α基因附近其他未知疾病基因的致病可能。本家系的致病基因有待进一步明确。 展开更多
关键词 青年发病 成年型糖尿病 2型糖尿病 遗传学 葡萄糖激酶 肝细胞核因子-1α 基因缺陷 分子筛查
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两例GCK基因突变家系的分子遗传学分析及临床思考 被引量:1
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作者 王志新 左庆瑶 +2 位作者 李伟 陈佳 邓微 《基础医学与临床》 CSCD 2020年第12期1640-1644,共5页
目的探讨2例葡萄糖激酶基因(GCK,NM_000162.4、NP_000153.1)突变导致的青少年的成人发病型糖尿病(MODY)患者的分子遗传学及临床特征。方法收集2015年4月至2015年12月北京积水潭医院收治并疑诊为MODY的2例患者的临床资料并进行分析,对该... 目的探讨2例葡萄糖激酶基因(GCK,NM_000162.4、NP_000153.1)突变导致的青少年的成人发病型糖尿病(MODY)患者的分子遗传学及临床特征。方法收集2015年4月至2015年12月北京积水潭医院收治并疑诊为MODY的2例患者的临床资料并进行分析,对该2例患者及其家系成员进行GCK基因测序,分析致病原因。结果在2例家系中,发现1个新的GCK基因杂合突变p.T82P(c.244 A>C)和1个已报告的GCK基因杂合突变p.V412M(c.1234G>A)。在临床表现方面,在2个家系的3例GCK基因突变携带者中,除血糖升高外,尚有不同程度的代谢综合征的临床表现。结论GCK基因T82P突变可能是MODY2的致病原因。GCK基因突变携带者临床表现复杂,在治疗和预后判断上需要个体化。 展开更多
关键词 青少年的成人发病型糖尿病 葡萄糖激酶 基因突变
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肝细胞核因子4α与糖尿病 被引量:5
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作者 马润 杨红英 《实验与检验医学》 CAS 2011年第6期583-586,共4页
肝细胞核因子4α(HNF-4α)属于核受体超家族成员,是在肝、肠、胰等组织器官中表达的一种细胞特异性转录因子。HNF-4α被认为在涉及肝脏、胰脏β细胞的发育、分化及功能的基因表达中有调节作用,并能维持葡萄糖稳态。它与其他HNF组成HNFs... 肝细胞核因子4α(HNF-4α)属于核受体超家族成员,是在肝、肠、胰等组织器官中表达的一种细胞特异性转录因子。HNF-4α被认为在涉及肝脏、胰脏β细胞的发育、分化及功能的基因表达中有调节作用,并能维持葡萄糖稳态。它与其他HNF组成HNFs转录调节网络,参与组织分化和能量代谢。HNF-4α突变型可诱发青少年发病的成年型糖尿病(MODY1)。近年来研究表明,HNF-4α基因的单核苷酸多态性(SNPs)可能与2型糖尿病易感性有关。全面系统分析HNF-4α在2型糖尿病发病中的遗传病理学机制,对预防和治疗2型糖尿病具有十分重要的意义。 展开更多
关键词 HNF-4Α MODY1 2型糖尿病
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青少年起病的成人型糖尿病的临床及基因特征 被引量:1
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作者 孙辉 吴海瑛 +4 位作者 谢蓉蓉 王凤云 陈秀丽 陈婷 陈临琪 《医学综述》 2017年第8期1618-1622,共5页
青少年起病的成人型糖尿病(MODY)是呈常染色体显性遗传的一种特殊类型糖尿病。MODY的流行率和特征在一些人群已经做了详细的研究,然而在中国需要更多的研究。在临床上,因其表型与1型糖尿病和2型糖尿病相重叠常常被误诊。建议对有家族史... 青少年起病的成人型糖尿病(MODY)是呈常染色体显性遗传的一种特殊类型糖尿病。MODY的流行率和特征在一些人群已经做了详细的研究,然而在中国需要更多的研究。在临床上,因其表型与1型糖尿病和2型糖尿病相重叠常常被误诊。建议对有家族史的、无代谢综合征和1型糖尿病特征的年轻患者行基因检测。正确的分子诊断对MODY患者治疗方案的合理选择、预后判断及家系成员的风险评估均具有重要意义。二代测序的出现使临床的诊断更加方便,同时希望用来发现其他突变类型。 展开更多
关键词 青少年起病的成人型糖尿病 基因诊断 单基因糖尿病 个体化治疗
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羧基酯脂肪酶与糖尿病和胰腺外分泌疾病相关性的研究进展 被引量:2
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作者 张荣 刘丽梅 《上海交通大学学报(医学版)》 CAS CSCD 北大核心 2015年第4期585-588,共4页
羧基酯脂肪酶(CEL)基因编码的蛋白是由胰腺腺泡细胞分泌的胆固醇酯的水解酶,是与青少年发病的成人型糖尿病(MODY)相关的7种分子中唯一非胰岛β细胞合成和分泌的蛋白。CEL基因的可变数目串联重复序列(VNTR)突变可以导致MODY-胰外分泌综... 羧基酯脂肪酶(CEL)基因编码的蛋白是由胰腺腺泡细胞分泌的胆固醇酯的水解酶,是与青少年发病的成人型糖尿病(MODY)相关的7种分子中唯一非胰岛β细胞合成和分泌的蛋白。CEL基因的可变数目串联重复序列(VNTR)突变可以导致MODY-胰外分泌综合征、胰岛素依赖型糖尿病(1型糖尿病)或非胰岛素依赖型糖尿病(2型糖尿病)及酒精性胰腺炎等胰腺外分泌疾病。该文就CEL基因突变/变异与糖尿病和/或胰腺外分泌疾病相关性的研究进展进行综述。 展开更多
关键词 羧基酯脂肪酶 青少年发病的成人型糖尿病 胰腺外分泌疾病
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