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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。
Objective To investigate the mutation frequency of melanocortin 4 receptor (MC4R) in obese children and its relationship with the changes of clinical biochemical indexes. Methods Children’s Hospital Affiliated to Zhejiang University School of Medicine and other units from 2004 to 2005, 200 obese and 100 normal weight children, using PCR and gene sequencing technology for MC4R gene screening, while 200 obese children biochemical detection and oral Glucose tolerance test. Results (1) Heterozygous heterozygous missense mutation was detected in 200 obese children. There were 3 nonsense mutations in 100 obese children. No mutations were detected in 100 control subjects. Val103Ile polymorphism was found in 6 and 2 of the two groups, respectively. Three new heterozygous mutation sites, Val166Ile, Cys277Stop and Arg310Lys, were found in the obesity group. The new heterozygous mutation Leu23Arg was also detected in the obesity group and the control group. (2) There was no significant difference in BMI, ALT, AST, TG, CHO and WBI-SI among obese children with MC4R mutation and non-mutation group (P> 0.05). Conclusions (1) Three new heterozygous mutation sites (Val166Ile, Cys277Stop, Arg310Lys) of MC4R gene were found in Han children for the first time. (2) Leu23Arg may be the gene polymorphism of MC4R in Han population.