目的:检测家族性色素失禁症(incontinentia pigmenti,IP)患者NEMO基因的缺失突变.方法:选取NEMO基因特异引物nemo-Int3S、nemo-Rep3S和nemo-L2Rev,采用多重聚合酶链反应对家系内成员NEMO基因的缺失位点进行检测.结果:IP家系内所检测患者中皆有NEMO基因外显子4～10缺失,家系内正常人未见NEMO基因缺失.结论:该家系患者的基因突变方式为NEMO外显子4～10缺失.

遗传性对称性色素异常症（dyschromatosis symmetrica hereditaria，DSH）是一种罕见的遗传性色素性皮肤病。典型皮损为发生在四肢伸侧的对称性色素减退及色素沉着斑和面部雀斑样皮损。现将2010～2012年我科诊治的20例患者及其4个家系的调查报告如下。

Objective To study the gene frequency of handedness in Xibo and Han nationalities of Liaoning province to provide data for genetic of human Anthropology.Methods We judge the left-handed or right handed people by mutiple observations(writing,throwing,using scissors).Results The dominant gene frequency of handedness was 0.8517, the recessive gene frequency of handedness was 0.1483 in Liaoning Xibo nationality.The dominant gene frequency was 0.7895 and the recessive gene frequency was 0.2105 in Han nationality.Conclusion There were significant diffrences in gene frequencies of handedness between Han and Xibo nationalities with no obvious differece between male and female.

蝎是原始蛛形纲动物,共分6科70属650种,中国蝎共15种,以东亚钳蝎(Buthus martensii Karsh, BmK)分布最广,数量最多.蝎毒 (scorpion toxin, ScTx)是毒性仅次于蛇毒的一种动物毒素.ScTx种类多,相对分子量小、稳定性好、活性强,具有广泛的生物学作用.其对Na+通道、K+通道、Ca2+通道的影响主要体现在对肌肉收缩、神经分泌,动作电位的频率与延续,体内电解质的平衡以及静息电位等一系列细胞活动方面的调节作用.ScTx的这些特性目前已被用于多方面的研究,本文仅就ScTx对离子通道的影响及其应用作以简要介绍.