瘦素受体基因变异与中国人肥胖的关系  

Variation of the human leptin receptor gene in obese Chinese population

作　　者：陈刚[1] 罗敏[1] 丁伟[1] 洪洁[2] 蔡东升[1] 苏青[1] 刘优萍[1] 宗阳[1] 金群燕[1] 

机构地区：[1]上海第二医科大学附属瑞金医院 [2]上海第二医科大学附属瑞金医院内分泌科,上海市内分泌研究所200025

出　　处：《中华内分泌代谢杂志》2001年第5期298-300,共3页Chinese Journal of Endocrinology and Metabolism

基　　金：国家自然科学基金资助项目(39770353)

摘　　要：目的　研究瘦素受体基因变异与中国人肥胖的关系。方法　选择肥胖病人〔体重指数(BMI)≥ 30kg/m2 〕和正常人 (BMI <2 5kg/m2 )各 5 0例 ,抽提基因组DNA ;用PCR SSCP技术筛查瘦素受体基因外显子 1～ 7、12和 18及内含子 2的变异。结果　在瘦素受体基因内含子 2处发现有碱基改变 (T→C) ;瘦素受体基因外显子 18发现碱基改变 (C→A) ,导致其 96 8位氨基酸由丙氨酸→天冬氨酸。结论　瘦素受体基因内含子 2发生碱基改变可能引起瘦素受体基因RNA剪切异常 ,导致产生异常的瘦素受体 ;瘦素受体基因外显子 18碱基改变 ,导致其 96 8位氨基酸由丙氨酸→天冬氨酸 ,氨基酸改变可能影响受体的空间构象 。Objective To investigate the relationship between the genetic variation of leptin receptor and obesity in Chinese population. Methods Genomic DNA was extracted from 50 obese subjects 〔Body mass index (BMI)≥30 kg/m 2〕 and 50 normal individuals (BMI<25 kg/m 2) by standard methods; primer pairs for PCR SSCP specific to the genomic sequence of exon 1 7, 12, 18 and intron 2 were synthesized and PCR SSCP was conducted to screen sequence variation. Results Variations in intron 2 (T→C) and in exon 18 (C→A) were found and the latter caused an amino acid variation (Ala→Asp). Conclusions The variation in intron 2 may result in abnormal splicing of leptin receptor gene RNA. The amino acid variation (Ala→Asp) in leptin receptor exon 18 may influence its conformation and function.

关 键 词：DNA突变分析 瘦素受体基因 肥胖 中国人 

分 类 号：R589.2[医药卫生—内分泌]