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    • 1. 发明申请
    • Genetic variations (SNPs) adjacent to the AKT1 gene locus, and diagnostic and prognostic uses thereof
    • 与AKT1基因座相邻的遗传变异(SNPs)及其诊断和预后用途
    • US20060204969A1
    • 2006-09-14
    • US11035377
    • 2005-01-14
    • Eric HoffmanJoseph Devaney
    • Eric HoffmanJoseph Devaney
    • C12Q1/68C07H21/04
    • C12Q1/6888C12Q2600/124C12Q2600/156
    • We have identified and isolated a 12 kb region immediately upstream of the AKT1 gene containing eight single nucleotide polymorphic polynucleotides (SNPs) in 4 haplotype regions that show strong association with body composition, Basal Mass Index, and AKT1 expression enhancement in human males. A four-locus haplotype (Haplotype 2) was defined where residues within highly conserved regulatory regions were altered. This haplotype explained up to 26% of population variation in bone cortical volume, 12% of subcutaneous fat volume, and 9% of strength variation, resulting in a body build with large bones, strong muscles, and low subcutaneous fat. Other SNPs detect, presymptomatically, the potential for increased amounts of subcutaneous fat and Type II diabetes. The detection of these SNPs by the techniques described herein forms the foundation for genotype-specific clinical interventions designed to slow the rapid population increases in obesity and Type II diabetes.
    • 我们已经鉴定并分离了4个单倍型区域中包含八个单核苷酸多态性多核苷酸(SNPs)的AKT1基因上游的12 kb区域,与人体组成,基础质量指数和AKT1表达增强在人类雄性中有很强的相关性。 定义了四基因座单倍型(单倍型2),其中高度保守的调控区域内的残基被改变。 这种单倍型解释了骨皮层体积,皮下脂肪体积的12%和强度变化的9%的群体变化的26%,导致身体建立与大骨骼,强壮的肌肉和低皮下脂肪。 其他SNP检测,在症状前,可能增加皮下脂肪和II型糖尿病。 通过本文描述的技术检测这些SNP形成了旨在减缓肥胖和II型糖尿病快速增长的基因型特异性临床干预的基础。