Segregation analysis of 1885 DMD families: significant departure from the expected proportion of sporadic cases

Summary The proportion of sporadic cases of Duchenne muscular dystrophy has been estimated by classical segregation analysis in a pooled sample of 1885 sibships from 7 different countries. A significant departure from the theoretical expectations based on mutation-selection equilibrium is observed (segregation frequency = 0.439 ± 0.017; frequency of sporadic cases = 0.229 ± 0.026, at the maximum likelihood). The occurrence of germinal mosaicism in some of the mothers of Duchenne cases may account for this peculiar finding, although a possible role of inequality of mutation rates in the two sexes cannot be ruled out.     

灭幼脲引起两种幼虫表皮组织病变的显微观察

本文研究了灭幼脲引起黄粉(虫甲)(Tenebrio mclitor)和粘虫(Mythimna separata)幼虫的中毒征象和组织学病变.低剂量能引起幼虫蜕皮障碍,但看不到明显的组织学病变.高剂量处理,不仅引起了严重的中毒征象,而且伴有明显的组织学病变:内表皮生长停滞,真皮细胞排列异常,在内表皮和真皮细胞之间出现附加层和球状颗粒.对这些现象进行了较细致的讨论.     

蚤数量与宿主数量关系

无论在自然条件下或在人为条件下,蚤指数和染蚤率的高低与宿主密度的高低是一致的.宿主密度的升降,会导致其寄生蚤指数和染蚤率的升降. 本文讨论了宿主数量下降导致其寄生蚤数量下降的原因,仅是分析推测,提出几方面的看法.     

Studies on the role of amino acids 38-45 in the expression of a functional thyrotropin receptor.

We previously reported that deletion or substitution of a unique eight-amino acid tract (residues 38-45) in the extracellular domain of the human TSH receptor led to the loss of specific ligand binding to the surface of transfected cells. In the present study we analyzed this region in more detail. Using site-directed mutagenesis of the TSH receptor cDNA, we substituted amino acid residues 38-45, either in three overlapping groups of four amino acids each or individually. The resultant TSH receptor mutant cDNAs were stably transfected into Chinese hamster ovary cells, and the cells were tested for their TSH-binding ability. Our data demonstrate that amino acid residues 38-40 and 42-45 in this region of the human TSH receptor can be substituted without alteration in receptor function and are, therefore, not critical in forming or maintaining the TSH-binding site. However, substitution of Cys41, either alone or together with adjacent amino acids, leads to the loss of TSH binding to its receptor. These data suggest a central role for the amino acid in position 41 in preserving the biological function of the TSH receptor.     

四川省西部鱼类寄生粘孢子虫——1.粘体虫属六新种(粘孢子纲:双壳目)

本文报导四川省西部鱼类寄生粘孢子虫粘体虫属六新种,即异型粘体虫,新种Myxosoma disparis sp.nov.,四川粘体虫,新种Myxosoma sichuanensis sp.nov.,光唇粘体虫,新种Myxosoma acrossochilusi sp.nov.鳅粘体虫,新种Myxosoma nemachilusi sp.nov.斜囊粘体虫,新种Myxosoma obliqua sp.nov.,雅安粘体虫,新种Myxosoma yaanensis sp.nov.。     

Temporal events of gypsy moth vitellogenesis and ovarian development

Abstract The vitellogenic period of gypsy moth ovarian development starts on day 3 of the pupal stage and continues through adulthood. During this period, rapid increases occur in follicle size, protein content, and wet weight of the ovary. Patency is observed on day 3 of the pupal stage.
Pre-vitellogenic follicles are formed in the last larval stadium. Newly formed follicles detach from the germarium on day 4, and increase rapidly to 140 per ovariole at the end of the last larval stadium. The pre-vitellogenic follicles are uniformly around 50 um in diameter. No vitellogenin is incorporated into the oocytes until the pupal stage.
Polyacrylamide gel electrophosesis (PAGE) in the presence of sodium dodecylsulphate (SDS) analysis of male and female haemolymph samples and vitellogenic ovaries demonstrates the presence of two female-specific subunits of vitellogenin of 180 kD and 160 kD. These proteins are detected only in haemolymph and ovarian extracts of vitellogenic females. The molecular weight of the native protein determined by size exclusion chromatography is approximately 400–420 kD.
A highly sensitive double antibody sandwich enzyme-linked immunosorbent assay (ELISA) was developed to monitor the temporal changes in vitellogenin titre in haemolymph. Vitellogenin production starts on day 2 of the last larval stadium, reaching a maximum level by day 6 of the last larval stadium, and decreasing in the late pupal stage as vitellogenin was internalized into the oocytes. This is the first report of vitellogenin production occurring in the larval stage of a holometabolous insect. The fact that vitellogenin production and uptake occur during different stages of development in the gypsy moth, opens up some interesting questions concerning the underlying regulatory mechanisms controlling each process.     

消炎痛及PGF_(2α)对在体培养人子宫内膜出血的影响

利用甾体激素撤退方法造成移植在地鼠颊囊内人子宫内膜出血的动物模型,研究消炎痛和PGF_(2a)对内膜出血的作用。结果表明,注射三种不同剂量消炎痛并不能完全抑制内膜出血,但对内膜出血时间有延缓作用。用两种不同剂量的PGF_(2a)采取缓慢释放给药方法,虽然地鼠在给药后外周血液中PGF_(2a)水平比给药前显著增高,但内膜出血并不出现在撤退甾体激素之前。结果提示,PGF_(2a)对内膜血管破裂无直接作用,而纤溶活性变化可能是触子宫内膜出血更直接的原因。