Palotie L P
Folkhälsoinstitutet, Avdelningen för medicinsk molekulär genetik, Helsingfors.
Nord Med. 1993;108(2):40-1.
The localisation and identification of the genes for human diseases are most important aspects of human gene mapping. The identification of a disease gene immediately defines the function of the respective chromosomal region. In other words, the identification and characterisation of morbid mutations provide a short-cut to the definition of specific functions of certain parts of the human genome. Professor Leena Peltonen Palotie has been awarded the Anders Jahre prize for young scientists for her basic research into hereditary diseases, particularly the Marfan syndrome and aspartyl-glucosaminuria.
人类疾病基因的定位与鉴定是人类基因图谱绘制的重要方面。疾病基因的鉴定能立即明确相应染色体区域的功能。换句话说,致病突变的鉴定与特征描述为定义人类基因组某些部分的特定功能提供了一条捷径。利娜·佩尔托嫩·帕洛蒂教授因其对遗传性疾病,特别是马凡综合征和天冬氨酰葡糖胺尿症的基础研究而荣获安德斯·亚赫青年科学家奖。