Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome,a complex human obesity syndrome

Bardet-Biedl syndrome (BBS, OMIM 209900) is a genetic disorder with the primary features of obesity, pigmentary retinopathy, polydactyly, renal malformations, mental retardation and hypogenitalism. Individuals with BBS are also at increased risk for diabetes mellitus, hypertension and congenital heart disease. What was once thought to be a homogeneous autosomal recessive disorder is now known to map to at least six loci: 11q13 (BBS1), 16q21 (BBS2), 3p13 p12 (BBS3), 15q22.3 q23 (BBS4), 2q31 (BBS5) and 20p12 (BBS6). There has been considerable interest in identifying the genes that underlie BBS, because some components of the phenotype are common. Cases of BBS mapping ro BBS6 are caused by mutations in MKKS; mutations in this gene also cause McKusick-Kaufman syndrome (hydrometrocolpos, post-axial polydactyly and congenital heart defects). In addition, we recently used positional cloning to identify the genes underlying BBS2 (ref. 16) and BBS4 (ref. 17). The BBS6 protein has similarity to a Thermoplasma acidophilum chaperonin, whereas BBS2 and BBS4 have no significant similarity to chaperonins. It has recently been suggested that three mutated alleles (two at one locus, and a third at a second locus) may be required for manifestation of BBS (triallelic inheritance). Here we report the identification of the gene BBS1 and show that a missense mutation of this gene is a frequent cause of BBS. In addition, we provide data showing that this common mutation is not involved in triallelic inheritance.     

圆筒型直线感应电动机推力特性计算

本文采用了伽辽金有限元方法,计算了具有运动次级的圆简型直线感应电动机的推力特性.为计及次级运动的感应作用,在扩散方程中增添了运动项,同时考虑了铁芯饱和及涡流效应,以及齿槽和边端效应的影响.所得计算值与实验结果吻合较好.文章还对气隙磁场进行了定量分析.     

论大洋河流域发展小水电的可行性

世界各国都面临能源危机问题,我国的能源也异常紧张.但我国的水能蕴藏量比较丰富,居世界首位.然而,我国的水能开发量却很低,现已开发利用的水能仅占我国水能总蕴藏量的4.5%,且都集中在大、中河流上,对水能资源较丰富的流域开发极少,为了充分开发小流域的水能资源发电,改变我国的能源紧张状况.本文对大洋河流域发展小水电的可行性进行论证.     

牛粪再生饲料的研究

本文利用牛粪中自然菌群进行发酵。通过控制发酵温度、发酵时间和料液浓度等参数,得到了适口性较好的畜、禽、鱼牛粪再生饲料。此饲料蛋白质含量达10％以上,必需氨基酸含量较高。     

2,4-二羟基苯甲醛-甘甘二肽席夫碱及其3d—过渡金属配合物的研究

合成了2,4-二羟基苯甲醛-甘甘二肽席夫碱(K·GGRS·H_2O)及其Mn(Ⅱ),Co(Ⅱ),Ni(Ⅱ),Cu(Ⅱ)等4种未见报导的配合物,通过元素分析、热重-差热分析、红外光谱、核磁共振谱、电子光谱、摩尔电导等方法对配体及配合物进行了表征,生物活性测定表明,配合物均具有一定的抗菌活性。