Article

Patterns of genetic variation in Mendelian and complex traits.

Department of Genetics, and Center for Human Genetics, Case Western Reserve University School of Medicine, and University Hospitals of Cleveland, Cleveland, Ohio 44106, USA.
Annual Review of Genomics and Human Genetics (Impact Factor: 9.13). 02/2000; 1:387-407. DOI: 10.1146/annurev.genom.1.1.387
Source: PubMed

ABSTRACT This review discusses the prospects for understanding the genetic basis of complex traits in humans. We take the view that work done on Drosophila melanogaster can serve as a model for understanding complex traits in humans, and the literature on this model system, as well as on humans, is reviewed. The prospects for success in understanding the genetic basis of complex traits depend, in part, on the nature of the forces acting on genetic variation. We suggest that different experimental approaches should be undertaken for traits caused by common genetic variants versus those arising from rare genetic variants.

Full-text

Available from: Michael E Zwick, Jun 02, 2015
0 Followers
 · 
73 Views
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Genetic factors are involved in the etiology of most common diseases and traits present in populations. Different methodological approaches can be utilized to determine genes involved according to their genetic features in diseases. In the majority of conditions that follow a simple Mendelian pattern culprit genetic mutations have been identified. Conversely complex traits that are most common in the population are also the most difficult to identify. Finding these genes is crutial no just to clarify the pathophysiology of these common diseases but also to identify environmental factors involved and to improve their treatment, including in some specific cases gene therapy.
    Acta médica costarricense 03/2009; 51(1):10-15.
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: We present a novel and simple method to manipulate droplets applicable to an open-surface microfluidic platform. The platform comprised a control module for pneumatic droplets and a superhydrophobic polydimethylsiloxane (PDMS) membrane. With pneumatic suction to cause deflection of the flexible PDMS-based superhydrophobic membrane, the sample and reagent droplets on the membrane become transported and mixed. A facile one-step laser micromachining technique serves to fabricate a superhydrophobic surface; a contact angle of 150° and a hysteresis angle of 4° were achieved without chemical modification. Relative to previous open-surface microfluidic systems, this platform is capable of simultaneous and precise delivery of droplets in two-dimensional (2D) manipulation. Droplets were manipulated with suction, which avoided interference from an external driving energy (e.g. heat, light, electricity) to affect the bio-sample inside the droplets. Two common bio-samples, namely protein and DNA, verified the performance of the platform. Based on the experimental results, operations on protein can be implemented without adsorption on the surface of the platform. Another striking result is the visual screening for multi-nucleotide polymorphism with hybridization-mediated growth of gold-nanoparticle (AuNP) probes. The detection results are observable with the naked eye, without the aid of advanced instruments. The entire procedure only takes 5 min from the addition of the sample and reagent to obtaining the results, which is much quicker than the traditional method. The total sample volume consumed in each operation is only 10 μL, which is significantly less than what is required in a large system. According to this approach, the proposed platform is suitable for biological and chemical applications.
    Lab on a Chip 04/2014; 14(12). DOI:10.1039/c4lc00089g · 5.75 Impact Factor
  • Human Molecular Genetics 01/2003; 12(3):205-216. DOI:10.1093/hmg/ddg055 · 6.68 Impact Factor