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目的对中国肥胖人群进行黑皮素4受体(MC4R)基因全长(包括编码区及侧翼区)进行筛查,以了解中国人该基因突变的情况。方法选取BMI≥30kg/m2的无亲缘关系的上海地区中国人256例,用聚合酶链反应单链构象多态性(PCRSSCP)技术对MC4R基因全长进行筛查,对异常片段进行测序。用聚合酶链反应限制性片段长度多态性(PCRRFLP)对320名健康对照者进行相应位点的突变检测。结果肥胖患者中发现MC4R一种错义突变,第261位氨基酸发生Phe261Ser改变,即F261S。突变携带者皆超重/肥胖,突变纯合子肥胖程度大于杂合子。突变携带者不伴有其它内分泌异常。此外,还见到3种变异,其中2种为尚未报道的变异:nt124C→G及Leu59Leu;另一种为既往报道过的Ile103Val。结论F261S突变为中国人中首次报道的MC4R基因突变。MC4R基因突变可能是中国人肥胖病发生的一个原因。
OBJECTIVE: To screen the gene encoding melanocortin 4 receptor (MC4R) gene in Chinese obese population for coding mutations and flanking regions to understand the gene mutation in Chinese. Methods Totally 256 unrelated Shanghai individuals with BMI ≥30 kg / m2 were selected to screen for the full-length MC4R gene by polymerase chain reaction single strand conformation polymorphism (PCRSSCP), and the abnormal fragments were sequenced. 320 healthy controls were detected by polymerase chain reaction restriction fragment length polymorphism (PCRRFLP). Results A missense mutation in MC4R was found in obese patients, and Phe261Ser was changed in amino acid 261, ie F261S. Mutant carriers were overweight / obesity, mutation homozygous obesity more than heterozygotes. Mutant carriers are not associated with other endocrine abnormalities. In addition, three variations were also observed, two of which were unreported mutations: nt124C → G and Leu59Leu; the other was previously reported as Ile103Val. Conclusion F261S mutation was the first reported MC4R gene mutation in Chinese. Mutation of MC4R gene may be one of the causes of obesity in Chinese.