Segregation at three loci explains familial and population risk in Hirschsprung disease

Hirschsprung disease (HSCR), the most common hereditary cause of intestinal obstruction, shows considerable variation and complex inheritance. Coding sequence mutations in RET, GDNF, EDNRB, EDN3 and SOX10 lead to long-segment (L-HSCR) and syndromic HSCR but fail to explain the transmission of the much more common short-segment form (S-HSCR). We conducted a genome scan in families with S-HSCR and identified susceptibility loci at 3p21, 10q11 and 19q12 that seem to be necessary and sufficient to explain recurrence risk and population incidence. The gene at 10q11 is probably RET, supporting its crucial role in all forms of HSCR; however, coding sequence mutations are present in only 40% of linked families, suggesting the importance of noncoding variation. Here we show oligogenic inheritance of S-HSCR, the 3p21 and 19q12 loci as RET-dependent modifiers, and a parent-of-origin effect at RET. This study demonstrates by a complete genetic dissection why the inheritance pattern of S-HSCR is nonmendelian.     

Résistance accrue des Souris axéniques à l'immunodépression induite par une irradiation totale

Summary Immunodepression induced by a sublethal dose of X Rays is always less in axenic mice than in holoxenic mice. Frequent infections of irradiated holoxenic mice increases the immunodepressive effect of X Rays.     

POM基MoS_2自润滑复合材料的真空摩擦学特性研究

分别用前驱体分解法与剥层重堆法制备出二硫化钼纳米球(nano-MoS2)与聚甲醛/二硫化钼夹层化合物(MoS2-IC),再利用制备的nano-MoS2、MoS2-IC与微米二硫化钼(micro-MoS2)作为原料制备出POM/MoS2复合材料.在真空摩擦磨损试验机上考察了复合材料的摩擦学性能,结果表明,POM/nano-MoS2复合材料具有最好的摩擦学性能,POM/MoS2-IC复合材料次之,而POM/micro-MoS2复合材料性能与POM比没有改善;SEM分析显示,POM及其复合材料主要发生的是疲劳磨损,POM/nano-MoS2的疲劳磨损最轻,POM/MoS2-IC疲劳磨损最严重,POM与POM/micro-MoS2除了疲劳磨损外,还存在明显的粘着磨损.