Genetic analysis of phytosterolemia

两名患有多发性黄瘤、间歇性关节炎和血小板减少的女性被诊断为植物类固醇血症，这是一种常染色体隐性脂肪储存疾病，基于她们血清中β-谷甾醇、油菜籽甾醇和谷甾醇浓度的升高。导致这种疾病的基因位于染色体2p21上D2S1788和D2S1352的微卫星标记之间，距离为18 centiMorgan。我们用该基因座周围的16个微卫星标记对患者及其家属进行了基因分型。一个家系的纯合性定位结果表明，该基因位于D2S2328与D2S1352之间12.6 centiMorgan的距离内。我们已经将遗传距离缩短了5.4厘米摩根。

Two women with multiple xanthomas, intermittent arthritis and thrombocytopenia were diagnosed as phytosterolemia, an autosomal-recessive lipid storage disease, based on their increased serum concentrations of β-sitosterol, campesterol and sitostanol. The gene responsible for this disease is located within the distance of 18 centiMorgan, between microsatellite markers of D2S1788 and D2S1352 at chromosome 2p21. We genotyped the patients and their family members with sixteen microsatellite markers around this locus. The results from the homozygosity mapping of one family suggested that the gene was located within the distance of 12.6 centiMorgan between D2S2328 and D2S1352. We have shortened the genetic distance by 5.4 centiMorgan.