The model organism Drosophila melanogaster has been at the forefront of genetic studies since before the discovery of DNA. Although human disease modeling in flies may still be rather novel, recent advances in genetic tool design and genome sequencing now confer huge advantages in the fly system when modeling human disease. In this review, we focus on new genomic tools for human gene variant analysis; new uses for the Drosophila Genetic Reference Panel (DGRP) in detection of background alleles that influence a phenotype; and several examples of how multigenic conditions, both complex disorders and duplication and/or deletion syndromes, can be effectively studied in the fly model system. Fruit flies are a far cry from the quaint genetic model of the past, but rather, continue to evolve as a powerful system for the study of human genetic disease.

模式生物果蝇自从发现DNA以来，一直处于基因研究的最前沿。尽管苍蝇中的人类疾病建模可能仍然是相当新颖的，但是在对人类疾病进行建模时，遗传工具设计和基因组测序的最新进展现在为飞行系统带来了巨大的优势。在这篇综述中，我们将重点放在用于人类基因变异分析的新基因组工具上。果蝇遗传参考小组（DGRP）在检测影响表型的背景等位基因方面的新用途；以及如何在飞行模型系统中有效研究多基因疾病（复杂疾病以及重复和/或缺失综合症）的几个例子。果蝇与过去的古朴遗传模型相去甚远，但是，果蝇仍在继续发展，成为研究人类遗传疾病的强大系统。