文摘

瘦素和瘦素受体基因多态性在多囊卵巢综合征

作者(年代):R。毒打,J。Fathima布托

多囊卵巢综合征(PCOS)是一种异构的障碍影响女性不孕早在1935年首次提出的。遗传研究已经确定了PCOS和胰岛素代谢紊乱之间的联系,和表明综合症可能表示一个复杂的遗传特质障碍。瘦素在调节青春期发病也很重要。极薄的女性经常停止排卵和异常稀薄的青少年女性进入青春期以后比他们更重的计数器部分,表明脂肪组织可能会产生一个信号,调节生殖,这个因素可能是瘦素。治疗的老鼠与瘦素加速成熟女性的生殖系统,导致早期发病的发情周期和生殖能力。患多囊卵巢综合征的妇女血清中瘦素浓度高于报道或类似weight-matched控制。地蜡基因的突变导致ob / obmice肥胖。在目前的研究中,地蜡(-2548)G / 20 LEPRQ223Rgenotypes一系列PCOS的病例和正常对照组进行分析。的患病率alleleswas不同的两组,控制和PCOSwomen。地蜡(-2548)G / A的总体分布3 PCOS患者的基因型(GG 19%;GA 56%; AA 25%) was comparable with the distributions found in related subjects of normal control (GG 28%; GA 50%;AA22%). Exonic polymorphisms in the LEPR gene, namelyQ223R polymorphism on the leptin concentration variable in a selected population of PCOS patients and normal control were studied. These polymorphisms cause a change in charge (Glutamine[Q] to Arginine[R]) at codon 223. For the Q223R polymorphism, the overall distribution of the 3 genotypes in the PCOS patients (QQ 45%; QR 41%; RR 14%) were compared with the distribution found in related subjects of normal control (QQ 40%; QR 57 %; RR 3%). Findings suggest that, in this sample, regulatory sequence primarily predisposing to early onset obesity was not in close linkage equilibriumwith these polymorphisms.