高分子物理概论

高分子概念的形成和高分子科学的出现始于20世纪20年代。当时有些有机化学家开展了缩聚反应及其自由基聚合反应的研究，并通过这些反应相继开发出尼龙（聚酰胺）66、氯丁橡胶、丁苯橡胶和聚甲基丙烯酸甲酯等一大批高分子材料，从而形成了“高分子化学”的研究领域。随着这些合成高分子的出现，解决这些高分子的性能和表征：以及了解其结构对性能的影响等问题也随之变得很必要了。因此从20世纪40年代至50年代，一批化学家、物理学家投入这方面的研究，渐渐形成了“高分子物理”这门新兴的学科。     

Janus green B and experimental syndactyly in chick embryos

Zusammenfassung JanusgrÜn B mit oxidativen Fermenten, insbesondere mit dem FAD, geht eine Komplexverbindung ein, die eine Syndaktylie zur Folge hat. Die Abbauprodukte des JanusgrÜn B (Diäthylsafranin undp-Dimethylanilin) wirken zwar gleich toxisch wie das JanusgrÜn B, haben aber keinen Syndaktylie-Effekt.

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We are indebted to Prof. B.Menkes for his advice and generous aid in our problems.     

The chick ovomucoid gene contains at least six intervening sequences.

A 15-kilobase pair EcoRI chick DNA fragment, containing both the termination codon UGA and the 5'-portion of the structural ovomucoid gene, has been cloned in lambda phage Charon 4A by in vitro packaging. Restriction mapping and electron microscopic analyses of this cloned DNA have revealed that the structural ovomucoid gene sequences are separated by at least six intervening sequences.     

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

Multiple studies have confirmed the contribution of rare de novo copy number variations to the risk for autism spectrum disorders. But whereas de novo single nucleotide variants have been identified in affected individuals, their contribution to risk has yet to be clarified. Specifically, the frequency and distribution of these mutations have not been well characterized in matched unaffected controls, and such data are vital to the interpretation of de novo coding mutations observed in probands. Here we show, using whole-exome sequencing of 928 individuals, including 200 phenotypically discordant sibling pairs, that highly disruptive (nonsense and splice-site) de novo mutations in brain-expressed genes are associated with autism spectrum disorders and carry large effects. On the basis of mutation rates in unaffected individuals, we demonstrate that multiple independent de novo single nucleotide variants in the same gene among unrelated probands reliably identifies risk alleles, providing a clear path forward for gene discovery. Among a total of 279 identified de novo coding mutations, there is a single instance in probands, and none in siblings, in which two independent nonsense variants disrupt the same gene, SCN2A (sodium channel, voltage-gated, type II, α subunit), a result that is highly unlikely by chance.     

Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.

Hereditary rippling muscle disease (RMD) is an autosomal dominant human disorder characterized by mechanically triggered contractions of skeletal muscle. Genome-wide linkage analysis has identified an RMD locus on chromosome 3p25. We found missense mutations in positional candidate CAV3 (encoding caveolin 3; ref. 5) in all five families analyzed. Mutations in CAV3 have also been described in limb-girdle muscular dystrophy type 1C (LGMD1C; refs. 6,7), demonstrating the allelism of dystrophic and non-dystrophic muscle diseases.