健康儿童载脂蛋白E遗传表型测定与血脂水平的关系

目的：探讨健康儿童载脂蛋白E(ApoE)遗传表型分布、等位基因频率分布及ApoE遗传多态性对血脂水平的影响。方法：90例健康儿童禁食12h,采静脉血。采用等电聚焦电泳法测定ApoE遗传表型并推断出其基因型,氧化酶法测定血清胆固醇(TC)、甘油三酯(TG)、低密度脂蛋白胆固醇(LDL-C)、高密度脂蛋白胆固醇(HDL-C),免疫比浊法测定载脂蛋白B(ApoB)、载脂蛋白A I (ApoA I)。结果：健康儿童ApoE等位基因频率的分布按Apoe2,Apoe3和Apoe4顺序依次为 5.55%,86.66%,7.77%。Apoe3等位基因频率最高,Apoe4及Apoe2等位基因频率低。与ApoE3/3表型相比,ApoE4/3表型血TC和LDL-C显著增高(均P<0.05)。ApoE2/3表型血TC和LDL-C平均水平有降低趋势,但未见统计学意义。血TG,HDL-C,ApoB,ApoA I在三组间无显著差异。结论：ApoE遗传多态性对健康儿童血脂水平有影响。Apoe4等位基因可能是高胆固醇血症的遗传易患因子。对健康儿童进行ApoE基因型检测,早期发现冠心病(CHD)高危人群,及时进行干预治疗,具有重要的临床意义。     

β3肾上腺素能受体基因多态性与儿童肥胖关联性的 Meta 分析北大核心CSCD

目的：探讨β3肾上腺素能受体（β3-AR）基因 Trp64Arg 变异与儿童肥胖易感性的关联。方法通过计算机检索 PubMed、Web of Science、Springer Link、超星 Medlink、中国生物医学文献服务系统、万方、维普和 CNKI 数据库,检索1995年1月至2014年2月公开发表的关于β3-AR 基因多态性与儿童肥胖关联的病例对照研究。根据统一的纳入排除标准,筛选文献,应用 RevMan 5.1软件对各纳入文献进行异质性检验及效应值合并,同时进行敏感性分析和偏倚估计。结果共检索到相关文献162篇,最终纳入符合条件的文献9篇,其中肥胖儿童1494例,正常体质量儿童1623人。等位基因 T 与 C 比较,中国病例组与对照组间的差异有统计学意义（P 约0.05）,同样 TC ＋ CC 与 TT 比较及 TC 与 TT ＋ CC 比较得到相似的结果;日本的研究结果与中国相似,但匈牙利病例组与对照组间的差异无统计学意义（P ﹥0.05）。各研究的敏感性分析比较稳定,且漏斗图形基本对称。敏感性分析和发表偏倚分析证实上述 Meta 分析结果是稳定和可靠的。结论 TC ＋ CC/ TT、TC/TT ＋ CC 基因型和 T/ C 等位基因均与中国、日本儿童肥胖的发生有关,但与匈牙利儿童肥胖的发生无明显相关。β3-AR 基因 Trp64Arg 变异与儿童肥胖遗传易感性存在地区差异性。     

载脂蛋白B基因EcoR I位点多态性对儿童血脂及肾功能的影响

目的探讨载脂蛋白B(ApoB)基因EcoR I位点多态性对儿童血脂及肾功能的影响。方法应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术结合测序的方法确定70例健康体检儿童ApoB基因EcoR I位点的基因型,同时计算体质量指数(BMI),检测血清脂蛋白a(LPa)、总胆固醇(TC)、三酰甘油(TG)、高密度脂蛋白胆固醇(HDL-C)、非高密度脂蛋白胆固醇(non-HDL)、低密度脂蛋白胆固醇(LDL-C)、ApoA1、ApoB、ApoA1/B、尿素氮(BUN)、肌酐(Ccr)及尿酸(UA)水平。结果1.EcoR I位点各基因型频率分别为E /E :72.875%,E /E-:18.571%,E-/E-:8.571%,等位基因E 与E-的频率分别为82.143%和17.857%;2.各基因型组间比较结果显示血清LPa、TC、HDL-C、ApoA1和BUN组间差异具有统计学意义(P<0.05);3.E /E-组血清TC、HDL-C和ApoA1水平显著高于E /E 组(P<0.01);E-/E-组BUN显著高于E /E 组(P<0.01);E-/E-组LPa和ApoA1明显低于E /E-组(P<0.05),但BUN明显较E /E-组升高(P<0.05);4.等位基因E-组血清TC、HDL-C、LDL-C和BUN明显高于E 组(P<0.05)。结论ApoB基因EcoR I位点多态性可能通过调控血脂代谢进而对肾功能构成的影响。     

瘦素基因多态性与哈萨克族儿童肥胖的关系

目的 探讨瘦素基因型与哈萨克族肥胖儿童的关系.方法 按照肥胖儿童诊断标准,选择乌鲁木齐周边地区96例哈萨克族肥胖患儿(肥胖组)和81例健康对照儿童(非肥胖组),空腹12 h后抽取2组儿童外周静脉血5 mL,常规提取基因组DNA,应用限制性片段长度多态性方法检测其C2549A瘦素基因型,同时检测各组空腹血脂水平,采用放射免疫法测定其空腹血浆瘦素和胰岛素水平.并测量各组儿童身高、体质量.结果 177例受试对象中,AA、AC、CC基因型频率分别为6.8％、52.5％、40.7％.A等位基因频率为33.0％,C等位基因频率为67.0％;瘦素、胰岛素等各项指标在AA+ AC组与CC组间及不同性别间比较差异无统计学意义;肥胖组患儿与非肥胖组儿童比较,除高密度脂蛋白、载脂蛋白A、载脂蛋白B外,其血清三酰甘油、总胆固醇、低密度脂蛋白、瘦素、胰岛素水平肥胖患儿均明显高于非肥胖儿童.结论 在哈萨克族儿童中存在瘦素基因A2549C多态性;瘦素基因多态性与哈萨克族儿童肥胖无关.     

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目的探讨单纯性肥胖儿童载脂蛋白(apolipoprotein,Apo)E基因多态性的分布及其对血脂、脂蛋白、载脂蛋白的影响,及其与冠状动脉、心电图改变的关系。并对其早期预测和疾病预防提供理论依据。方法选择2002年12月至2004年12月潍坊医学院附属医院儿科的6～14岁单纯性肥胖儿童89例和健康儿童76例。抽取外周静脉血,测定血清中甘油三酯(TG),总胆固醇(TC),高密度脂蛋白胆固醇(HDLC),低密度脂蛋白胆固醇(LDLC),载脂蛋白A1(ApoA1),载脂蛋白B100(ApoB100)浓度。应用改良的聚合酶链式反应限制性片段长度多态性(PCRRFLP)分析及聚丙烯酰胺凝胶电泳测定儿童ApoE基因型。结果共检出4种ApoE基因型,E3/3、E4/3、E2/3、E4/2,以ε3为最常见。与健康儿童比较,肥胖儿童ε4等位基因频率增高,差异有显著性(P<0.05)。结论单纯性肥胖儿童有ApoE基因多态性的变化,且明显影响小儿血浆脂类代谢,肥胖儿童ApoE4与冠心病有密切相关性。     

载脂蛋白B基因EcoR Ⅰ位点多态性对儿童生长发育及营养状况的影响

目的探讨载脂蛋白B(ApoB)基因EcoRⅠ位点多态性对儿童生长发育及营养状况的影响。方法应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术结合测序的方法确定70例健康体检儿童ApoB基因EcoRⅠ位点的基因型,同时计算体重指数(BMI)作为儿童生长发育的评价指标,检测血清总蛋白(TP)、白蛋白(AIB)、球蛋白(GLO)、白蛋白/球蛋白(A/G)、脂蛋白a(LPa)、总胆固醇(TC)、甘油三酯(TG)、高密度脂蛋白胆固醇(HDL-C)、非高密度脂蛋白胆固醇(non-HDL)、低密度脂蛋白胆固醇(LDL-C)、ApoA1、ApoB及ApoA1/B作为营养状况的评价指标。结果①EcoRⅠ位点各基因型的频率分别为E /E 72.9%、E /E-18.6%、E-/E-8.6%,等位基因E 与E-的频率分别为82.1%和17.9%;②各基因型组间比较显示血清AIB、HDL-C、TP、Lpa、TC和ApoA1差异具有统计学意义;③E /E-组血清TC、HDL-C、ApoA1水平显著高于E /E 组(P<0.01);E-/E-组血清TP及AIB浓度显著低于E /E 组(P<0.01);E-/E-组血清TP、AIB、Lpa和ApoA1水平显著低于E /E-组;④等位基因E-组血清TP和AIB水平显著低于E 组(P<0.05、<0.01),而TC、HDL-C及LDL-C水平显著高于E 组(P<0.05);⑤血清LDL-C分别与TP及AIB呈高度负相关(P<0.05),而HDL-C与AIB呈显著正相关(P<0.05)。结论ApoB基因EcoRⅠ位点多态性对儿童生长发育不构成影响,但可以通过影响血脂代谢对儿童的营养状况产生效应。     

血管紧张素转化酶基因插入/缺失多态性及β3肾上腺素能受体基因Trp64Arg多态性对胎儿宫内发育及新生儿胰岛素敏感性的影响

目的 探讨血管紧张素转化酶(angiotensin converting enzyme,ACE)基因插入/缺失(insertion/deletion,I/D)多态性及B3-肾上腺素能受体(β3-adrenalgic receptor,β3-AR)基因Trp64Arg多态性对胎儿宫内发育和新牛儿胰岛素敏感性的影响.方法 将入选296例新生儿分为2组,适于胎龄儿组222例,小于胎龄儿组74例,于生后3d哺乳前检测血糖、胰岛素,计算HOMA-IR值评估胰岛素敏感性,应用PCR-RFLP方法分析β3-AR基因Trp64Arg多态性及ACE基因I/D多态性(202例),比较不同基因型组的孕周、出生体重、出生体重百分位及胰岛素敏感性,应用SPSS 10.0软件进行统计学处理.结果 小于胎龄儿组HOMA-IR值(Ln对数转换后)为0.217±0.367,高于适于胎龄儿组0.001±0.378,差异有统计学意义(P相似文献   

肥胖儿童脂代谢及血压与ACE基因多态性的临床研究

目的 探讨血管紧张素转换酶(ACE)基因第16内含子的插入/缺失(I/D)多态性和D等位基因频率在健康及单纯型肥胖儿童中的分布及ACE基因多态性对肥胖儿童的血压、脂质代谢及体脂分布的影响.方法 常规酚一氯仿法抽提基因组DNA,用聚合酶链式反应一限制性片断长度多态性(PCR-RFLP)琼脂糖凝胶电泳法分析105例单纯性肥胖儿童及98例健康儿童ACE基因的基因型及等位基因频率并测定两组儿童血清三酰甘油(TG)、总胆固醇(TC)、高密度脂蛋白胆固醇(HDLC)、低密度脂蛋白胆固醇(LDLC)浓度,并测定两组儿童血压、身高和体质量,按公式计算其体质指数(BMI).结果 检出3种ACE基因第16内含子的基因型D/D、D/I、I/I.与健康儿童相比,单纯性肥胖儿童具有较高的D/D基因型频率(27.5%)及D等位基因频率(43.75%).D/D型儿童与D/I型和I/I型儿童相比具有较高水平血TG、TC、LDL-C及收缩压、舒张压、BMI和较低水平的血HDL-C.结论 健康及单纯性肥胖儿童ACE基因存在多态性,且ACE基因多态性对健康儿童及肥胖儿童的血脂代谢、体脂分布及血压均有影响.     

载脂蛋白E基因多态性与原发性肾病综合征脂质代谢紊乱的关系

目的研究原发性肾病综合征(PNS)患儿载脂蛋白E(apoE)主要等位基因和基因型的分布规律,探讨apoE基因多态性与PNS脂质代谢紊乱的关系。方法检测PNS患儿46例和正常小儿39例血清总胆固醇(TC)、三酰甘油(TG)、高密度脂蛋白胆固醇(HDL-C)、低密度脂蛋白胆固醇(LDL-C)、apoA1、apoB和apoA1/B,同时用聚合酶链反应-单链构象多态性(PCR-SSCP)结合测序的方法确定apoE基因型,并根据平衡法计算出各等位基因频率。结果1.肾病组TC、TG、HDL-C、LDL-C、apoB、apoA1/B均明显高于对照组(P均<0.01);2.肾病组apoE2/2频率显著高于对照组(χ2=4.50 P<0.05);3.肾病组不同基因型和等位基因各项血脂指标均未见明显差异。结论PNS患儿存在明显脂质代谢紊乱,apoE2/2频率显著增高,apoE基因多态性对PNS患儿血脂水平未见明显影响。     

脂蛋白脂酶基因多态性与儿童单纯性肥胖的关系

目的　探讨脂蛋白脂酶(LPL)基因中常见多态位点HindⅢ基因多态性与儿童单纯肥胖之间的关系。方法　用聚合酶链反应(PCR)和限制性内切酶片段长度多态性(RFLP)技术,检测92 例单纯肥胖儿童和80 例正常儿童的HindⅢ-LPL基因多态性,测定血脂、脂蛋白含量及体块指数(BMI)、血压、皮褶厚度等。结果　肥胖组H H -LPL基因型频率及H 等位基因频率分别为59.78% 和79.35% ,明显高于正常对照组。肥胖组H H -LPL基因型亚组的TG、TC、LDL-C、ApoB含量以及BMI、舒张压、肱二头肌皮褶厚度、肩胛下皮褶厚度等,均明显高于H H- -LPL基因型亚组。结论　H H 与儿童单纯肥胖相关,等位基因H 可能是儿童单纯肥胖的一种遗传易感标志     

Effect of Trp64Arg mutation of the β3-adrenergic receptor gene and C161T substitution of the peroxisome proliferator activated receptor γ gene on obesity in Japanese children

OBJECTIVE: Obesity is a multifactorial syndrome influenced by both genetic and behavioral factors. Trp64Arg mutation of the beta3-adrenergic receptor (AR) gene and C161T substitution of the peroxisome proliferator-activated receptor (PPAR) gamma gene have been reported to be associated with obesity or lipid metabolism in adults. However, the effects of these mutations on children have not yet been clarified. For this reason, we studied the effects of Trp64Arg mutation of the beta3-AR gene and C161T substitution of the PPARgamma gene on obesity in Japanese children. SUBJECTS AND METHODS: In order to determine the effects of Trp64Arg mutation of the beta3-AR gene and C161T substitution of the PPARgamma gene on obesity in children, 105 obese Japanese children were screened by the polymerase chain reaction and restriction fragment-length polymorphism analysis. Plasma lipid, apolipo-protein (apo), glucose, insulin and leptin levels were also determined. RESULTS: Obese boys with Trp64Arg showed a higher obesity index and lower plasma levels of high-density lipoprotein cholesterol (HDL-C), apoA-I and apoA-II than those of them without the mutation. Obese boys with both mutations showed a higher plasma leptin level than those with only the beta3-AR gene mutation or PPARgamma gene mutation. No significant effect of these mutations was found in obese girls. CONCLUSION: All of these data suggest that Trp64Arg mutation of the beta3-AR gene might affect obesity and HDL metabolism in obese boys. In contrast, C161T mutation of the PPARgamma gene, by itself, is unlikely to influence obesity, lipid metabolism or plasma leptin levels.     

Association of Trp64Arg polymorphism of beta3-adrenergic receptor with insulin resistance in Polish children with obesity

AIM: To establish the influence of the Trp64Arg variant of the beta3-adrenergic receptor (Trp64Arg- beta3AR) on body mass index (BMI) and insulin resistance (IR) in obese children. METHODS: BMI, presence of the Trp64Arg mutation, plasma glucose and insulin concentrations during an oral glucose tolerance test (OGTT) and IR were determined in 60 obese and 33 normal weight children. RESULTS: The frequency of Trp64Arg was similar in normal weight and obese children. BMI, glucose and insulin concentrations during an OGTT in children with Trp64Argbeta3AR were not different from those with Trp64Trpbeta3AR. IR was confirmed in 42.8% of children with Trp64Argbeta3AR and in 45.6% of children with Trp64Trpbeta3AR (NS). CONCLUSIONS: 1. The similar frequency of the Trp64Argbeta3AR variant in normal weight and obese children suggests that it is not a susceptibility gene for obesity in Polish children. 2. The presence of the Trp64Argbeta3AR variant does not have an unfavourable influence on BMI, glucose or insulin concentrations during OGTT or on IR frequency in Polish obese children.     

Association of a mutation in the β3-adrenergic receptor gene with obesity and response to dietary intervention in Chinese children

This study aimed to determine whether the Trp64Arg mutation in the beta3-adrenergic receptor beta3-adr) gene is related to childhood obesity and the response to dietary intervention for obesity. The study included 311 healthy children aged 8-11 y selected at random from 4 primary schools in Beijing. Fasting insulin and lipids were measured and anthropometry was carried out for all samples. The mutation of the beta3-adr gene was determined by polymerase chain reaction-restriction fragment length polymorphism analysis. Forty-seven obese children were selected and divided into two groups. One group received dietary intervention (36 subjects); the other served as the control group (11 subjects). After 3 mo of dietary intervention, anthropometry was carried out again in 47 obese children. The frequency of the mutated allele was similar in 73 overweight and 238 normal-weight children (0.18 and 0.17, respectively). Adjusted for age and sex. there was no significant difference in body mass index (BMI) and the levels of fasting lipids and insulin between those with and without the mutation of the 311 children. However, after 3 mo of dietary intervention. increases in weight and BMI were significantly lower in obese children without the mutation than in the control group (2.41 +/- 0.56 vs 4.43 +/- 0.70. p < 0.05: 0.48 +/- 0.24 vs 1.55 +/- 0.35, p < 0.05. respectively), but the changes in weight and BMI in obese children with the mutation were similar to the results in the controls (4.32 +/- 0.69 vs 4.43 +/- 0.70; 1.47 +/- 0.32 vs 1.55 +/- 0.35). CONCLUSION: The Trp64Arg mutation of the beta3-adr gene may predict the result of dietary intervention in obese children to some extent, but it was not a major factor affecting weight in Chinese children.     

瘦素抵抗及其受体基因变异对单纯性肥胖患儿脂代谢的影响

目的探讨瘦素受体(LEPR)基因外显子突变与瘦素抵抗对单纯性肥胖患儿脂代谢的影响。方法选取6～14岁单纯性肥胖患儿102例(肥胖组)及非肥胖儿童83例(对照组)为研究对象,空腹12 h后抽取2组儿童外周静脉血,常规抽提基因DNA,用PCR限制性片断长度多态性及聚丙烯酰胺凝胶电泳法对2组儿童LEPR基因的第20外显子基因变异频率进行分析,采用放射性免疫分析法测定其血清瘦素水平及血清三酰甘油(TG)、总胆固醇(TC)、高密度脂蛋白胆固醇(HDL-C)、低密度脂蛋白胆固醇(LDL-C)水平及2组儿童身高和体质量。结果共检出3种LEPR基因第20外显子的基因型:AA型、AG型、GG型;与对照组儿童比较,单纯性肥胖患儿LEPR基因第3 057位核苷酸G→A突变率增高。AA基因型的肥胖患儿血清TC、TG、LDL-C水平均明显高于GG型者,而HDL-C水平低于后者。与对照组比较,肥胖组患儿存在血脂代谢紊乱,血清瘦素水平增高,79%存在瘦素抵抗。瘦素抵抗组患儿血清TC、TG、LDL-C显著高于瘦素敏感组,HDL-C低于瘦素敏感组。基因型为AA的瘦素抵抗者与基因型为GG的瘦素抵抗者比较,血清TG、LDL-C水平升高,HDL-C水平降低(Pa<0.05)。结论单纯性肥胖患儿存在瘦素抵抗及LEPR基因第20外显子基因突变,二者可影响儿童脂质代谢,且有一定的协同作用。临床表现为LEPR基因第20外显子AA基因型的瘦素抵抗个体更易发生血脂代谢紊乱。     

Serum Lipid and Lipoproteins Concentrations in Obese Children as Atherogenic Risk Factors

Nine hundred and ninety-eight obese children aged 6 to 15 years participated in the present study. Fasting serum lipid and lipoprotein cholesterol values were measured and the relationship between obesity and abnormalities of serum lipids and lipoproteins was assessed. The results were as follows: 1. Obese children were more likely than non-obese children to have elevated serum total cholesterol (TC), triglyceride (TG) and LDL-C(low density lipoprotein cholesterol) levels and reduced HDL-C (high density lipoprotein cholestrol) levels. 2. The more the relative body weight index increased, the worse the abnormalities of serum lipids and lipoproteins became. This tendency was marked in junior high-school boys. 3. Hypercholesterolemia in obese children was mostly accounted for by LDL-C only and elevated HDL-C could not be detected.     

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??Objective??To investigate the relationship between β1 adrenergic receptor??β1-AR??gene polymorphism and outflow tract ventricular premature??OTVP??in Han Chinese children. Methods??A case-control study was performed. A total of 151 children with OTVP were recruited??who were diagnosed in Beijing Children’s Hospital from January 2014 to December 2015??and 150 healthy children served as controls. Peripheral blood samples were collected from all subjects and the genotype of β1-AR were determined by PCR??followed by direct sequencing. The frequency distribution of genotypes was compared between the OTVP and control groups. The association between polymorphism of β1-AR and OTVP was analyzed. Results??The frequencies of β1-AR genotypes Arg/Arg??Arg/Gly and Gly/Gly were 50.5%??38.5% and 11% in all children. The allelic frequencies of Arg389 and Gly389 were 69.8% and 30.2%. The allelic frequencies of Arg389 in female chidren were higher than in male??P??0.005??.There were significant differences in the genotype and allele frequencies of β1-AR gene Arg389Gly between the OTVP and controls ??P??0.012??P??0.002????and Arg389 allele was a risk factor ??OR??1.733??95%CI??1.218??2.466??. No differences of genotype were observed between different genders in children with OTVP??P??0.088????but there were significant differences in the genotype between loads of ventricular premature and nonsustained ventricular tachycardia??P??0.029??P??0.019??. Conclusion??The gene polymorphism of Arg389Gly in β1-AR might be associated with the OTVP in Han Chinese children and Arg389 allele gene is a risk factor. The genotype of Arg/Arg might be a genetic susceptibility factor of high-level loads of ventricular premature and nonsustained ventricular tachycardia in children with OTVP.     

Variation analysis of β3-adrenergic receptor and melanocortin-4 receptor genes in childhood obesity

BACKGROUND: Decreased energy expenditure and increased food intake are principal causes for obesity. In the present study, genotypes of beta(3)-adrenergic receptor (beta(3)AR) and of melanocortin-4 receptor (MC4R), both of which are believed to have a close link to the cause of obesity, were analyzed and compared with phenotypes of childhood obesity. METHODS: Thirty-five obese children with moderate to severe obesity were enrolled. Direct sequencing of the MC4R coding region and pinpoint-polymerase chain reaction were used to detect genomic variation in the beta(3)AR gene using peripheral blood-derived DNA. RESULTS: Allele frequency of Trp64Arg variation in the beta(3)AR gene in the obese subjects was 0.16, which is comparable with that in the healthy general population in eastern Asia. Comparison of phenotypical characteristics did not show a significant difference between Trp/Trp and Trp/Arg subjects. It was notable that body height SD was significantly higher in the Trp/Trp than the Trp/Arg subjects (0.93 +/- 1.0 SD vs 0.07 +/- 1.3 SD, P= 0.03). Annual weight gains were far beyond a hypothetical fat gain in an Arg64 heterozygote with decreased energy consumption, suggesting increased food intake in childhood obesity. There was, however, no variation in the MC4R gene despite thorough sequencing of the entire coding region. CONCLUSIONS: The Trp64Arg variation in the beta(3)AR gene has no relationship to the degree or the incidence of childhood obesity. The majority of childhood obesity can be characterized as tall stature, more rapid weight gain than that expected by decreased energy expenditure. Further investigation is necessary in regard to the increased food intake as a major cause of childhood obesity.     

Sudden infant death: no evidence for linkage to common polymorphisms in the uncoupling protein-1 and the beta3-adrenergic receptor genes

Thermal stress has been postulated to play a major role in the aetiology of sudden infant death (SID). The human uncoupling protein-1 (UCP-1), expressed in brown adipose tissue dissipates the transmitochondrial proton gradient as heat and plays a central role in energy homeostasis and thermogenesis. A common Bcl I polymorphism in the promoter region of the UCP-1 gene is associated with reduced UCP-1 adipose tissue mRNA and obesity. In addition, a common sequence variation in the beta3-adrenergic receptor gene (beta3-AR), Trp64Arg, has been linked to a decreased resting metabolic rate. To determine whether the UCP-1 Bcl I polymorphism and/or the Trp64Arg variant of beta3-AR are associated with the occurrence of SID, we determined the allele frequencies of these polymorphisms in 53 Austrian SID victims and 54 controls by nested PCR and restriction digestion using DNA extracted from Guthrie cards. We found that the allele frequencies of both polymorphisms did not differ between the SID and control groups (0.65/0.35 versus 0.72/0.28 for UCP-1 Bcl I, and 0.89/0.11 versus 0.93/0.07 for beta3-AR Trp64Arg in SID victims versus controls, respectively). CONCLUSION: Our data do not support a major association between the occurrence of sudden infant death and two common functional polymorphisms in the human uncoupling protein-1 and beta3-adrenergic receptor genes.     

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目的探讨肥胖儿童黑皮质素4受体(MC4R)的突变频率及其与临床生化指标改变的关系。方法浙江大学医学院附属儿童医院等单位于2004—2005年,对200例肥胖及100例正常体重儿童,利用PCR及基因测序技术进行MC4R基因筛查,同时对200例肥胖儿童进行生化检测和口服葡萄糖耐量试验。结果(1)200例肥胖儿童中检出杂合子错义突变、无义突变3例;100例对照组中未检出突变;Val103Ile基因多态性在两组中分别有6例、2例。肥胖组中发现了3个新的杂合子突变位点Val166Ile、Cys277Stop、Arg310Lys;肥胖组和对照组中同时检测到新的杂合子变异Leu23Arg。(2)MC4R突变组和非突变组的肥胖儿童BMI、ALT、AST、TG、CHO、WBI-SI比较均无统计学意义(P>0·05)。结论(1)首次在汉族儿童人群中发现了MC4R基因3个新的杂合子突变位点(Val166Ile、Cys277Stop、Arg310Lys)。(2)Leu23Arg可能是汉族人群MC4R的基因多态性。