Martin L J, Blangero J, Rogers J, Mahaney M C, Hixson J E, Carey K D, Morin P A, Comuzzie A G
Departments of Genetics, Physiology and Medicine, Southwest Foundation for Biomedical Research San Antonio, Texas 78245-0549, USA.
Physiol Genomics. 2001 Mar 8;5(2):75-80. doi: 10.1152/physiolgenomics.2001.5.2.75.
Estrogen, a steroid hormone, regulates reproduction and has been implicated in several diseases. We performed a genome-wide scan using multipoint linkage analysis implemented in a general pedigree-based variance component approach to identify genes with measurable effects on variation in estrogen levels in baboons. A microsatellite polymorphism, D20S171, located on human chromosome 20q13.11, showed strong evidence of linkage with a LOD score of 3.06 (P = 0.00009). This region contains several potential candidate genes including melanocortin 3 receptor (MC3R), cytochrome P-450 subfamily XXIV (CYP24), and breast carcinoma amplified sequence (BCAS1). This is the first evidence of a quantitative trait locus with a significant effect on estrogen.
雌激素是一种类固醇激素，它调节生殖功能，并与多种疾病有关。我们采用基于一般家系的方差成分法进行多点连锁分析，进行了全基因组扫描，以确定对狒狒雌激素水平变异有可测量影响的基因。位于人类20号染色体20q13.11上的一个微卫星多态性位点D20S171显示出强烈的连锁证据，LOD值为3.06（P = 0.00009）。该区域包含几个潜在的候选基因，包括黑皮质素3受体（MC3R）、细胞色素P-450第XXIV亚家族（CYP24）和乳腺癌扩增序列（BCAS1）。这是对雌激素有显著影响的数量性状位点的首个证据。
