Figure 3-8 Schematic representation of chromatin and three major epigenetic mechanisms: DNA methylation at CpG dinucleotides, associated with gene repression; various modifications (indicated by different colors) on histone tails, associated with…
General References Li CC. First course in population genetics. Boxwood Press: Pacific Grove, CA; 1975. Nielsen R, Slatkin M. An introduction to population genetics. Sinauer Associates, Inc.: Sunderland, MA; 2013.
The Rh System One clinically important example of marked differences in allele frequencies is seen with the Rh blood group. The Rh blood group is very important clinically because of…
References for Specific Topics Amiel J, Sproat-Emison E, Garcia-Barcelo M, et al. Hirschsprung disease, associated syndromes, and genetics: a review. J Med Genet. 2008;45:1–14. Bertram L, Lill CM, Tanzi RE….
General References Chakravarti A, Clark AG, Mootha VK. Distilling pathophysiology from complex disease genetics. Cell. 2013;155:21–26. Rimoin DL, Pyeritz RE, Korf BR. Emery and Rimoin’s essential medical genetics. Academic Press…
The Challenge of Multifactorial Disease with Complex Inheritance The greatest challenge facing medical genetics and genomic medicine going forward is unraveling the complex interactions between the variants at multiple loci…
Figure 8-1 A, The normal gaussian distribution, with mean (average) and standard deviations (SDs) indicated. For many traits, the “normal” range is considered the mean ± 2 SD, as indicated by…
General References Bennett RL, French KS, Resta RG, Doyle DL. Standardized human pedigree nomenclature: update and assessment of the recommendations of the National Society of Genetic Counselors. J Genet Counsel….
Importance of the Family History in Medical Practice Among medical specialties, medical genetics is distinctive in that it focuses not only on the patient but also on the entire family….
