色氨酸在 Toyopearl HW-40S 凝胶填料上非理想排阻行为的研究

发现１８种氨基酸特别是色氨酸．在ＴｏｙｏｐｅａｒｌＨＷ－４０Ｓ树脂所填色谱柱上表现出非理想排阻行为的基础上，以色氨酸在该柱上的保留时间为指标，探讨不同流动相改良剂对该凝胶与色氨酸之间的相互作用，阐明这种反常行为是疏水作用，离子交换以及氢键三者综合作用的结果，而疏水作用是最主要的影响因素．实验结果表明，流动相组成对该凝胶色谱行为具有明显的影响，从而有助于确立该凝胶理想的排阻色谱条件，为利用该凝胶所具有的吸附性能分离分析肽类和氨基酸等小分子物质奠定了基础     

The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A.

Charcot-Marie-Tooth disease type 1A (CMT1A) is an autosomal dominant peripheral neuropathy associated with a large DNA duplication on the short arm of human chromosome 17. The trembler (Tr) mouse serves as a model for CMT1A because of phenotypic similarities and because the Tr locus maps to mouse chromosome 11 in a region of conserved synteny with human chromosome 17. Recently, the peripheral myelin gene Pmp-22 was found to carry a point mutation in Tr mice. We have isolated cDNA and genomic clones for human PMP-22. The gene maps to human chromosome 17p11.2-17p12, is expressed at high levels in peripheral nervous tissue and is duplicated, but not disrupted, in CMT1A patients. Thus, we suggest that a gene dosage effect involving PMP-22 is at least partially responsible for the demyelinating neuropathy seen in CMT1A.