Germline mosaicism complicates molecular diagnosis of Lesch–Nyhan syndrome

A healthy female with a brother suffering from Lesch–Nyhan syndrome was assigned a carrier status on the basis of haplotype analysis employing flanking and intragenic polymorphic markers of the HPRT gene. Her mother has been confirmed as a definite carrier by cell growth selection studies in cultured fibroblasts. In our proposita's first pregnancy, a male fetus was identified carrying the risk allele. Afterwards, the underlying novel mutation A161E (GCA→GAA at position c482) could be identified in the affected brother and in the heterozygous mother but not in the DNA of the pregnant sister and fetus. The fetus was also confirmed to be normal by uptake of 14C-hypoxanthine in cultured amniotic cells. To test the discrepancy, the investigation was extended by recruiting additional family members. The data obtained showed that the mother had passed her risk haplotype to the affected son as well as to her mutation-carrying and non–mutation-carrying daughters. This provides the first evidence of concomitant somatic and germline mosaicism in Lesch–Nyhan syndrome. The study has a bearing on genetic counselling and cautions against the reliability of only using indirect genetic diagnosis even with intragenic markers. Copyright © 2004 John Wiley & Sons, Ltd.     

"耕读文化"的旅游开发利用研究——以浙江楠溪江流域古村落为例

浙江永嘉县楠溪江流域是典型的“耕读文化”分布区,具有巨大的旅游开发价值,但目前流域内旅游开发力度不够、开发方式单一、开发效益较低。其中有管理体制问题、资金问题和如何协调开发与保护关系问题,但最核心的问题是没有找到将地方旅游资源转换为具体旅游项目或旅游产品较好的方式,特别是由于“耕读文化”的抽象性、隐含性及具体存在形式的零散性,开发时比其它旅游资源的难度更大。基于楠溪江旅游开发这一核心问题,从旅游项目策划、产品开发角度探讨了楠溪江“耕读文化”的旅游开发。     

柞蚕多角体病毒的纯化和鉴定

对柞蚕多角体病毒(ApNPV)的多角体颗粒进行了分离和纯化,并在显微镜下进行了形态观察．提取和纯化了柞蚕多角体病毒的基因组DNA,对DNA进行了部分限制性内切酶图谱鉴定．结果表明,在ApNPV基因组中只含少量的EcoRI位点,与家蚕核型多角体病毒差别很大,并提示这两种病毒的复制机制可能不同．图3参5。