sensory loss, weakness, diabetes mellitus, cardiomyopathy
Figure 2.11 Single base pair changes in exon 4 of APOE define the 2, 3, and 4 alleles at this locus.
(Source: Modified from Pericak‐Vance and Haines (1995).)
Summary
The study of genes, chromosomes, and patterns of transmission of human traits within families has led to remarkable discoveries that are useful in genetic counseling for recurrence risk, presymptomatic testing, prenatal diagnosis (see Chapter 5), and in the understanding of the pathogenesis of diseases. The genetic basis of Mendelian disease is relatively straightforward and is well understood in many cases. The situation in common, complex diseases is markedly different from the study of Mendelian disease, since more than one gene as well as various non‐genetic factors are typically associated with trait phenotype expression. Yet, many of the same principles hold true in complex disease: Mendel’s laws regarding the transmission of genes and alleles at loci are as important to the study of resemblance between relatives in genetically complex disease as in Mendelian disease; the same holds true for the extent and result of the differing types of mutation. The potential rewards of localizing disease susceptibility genes for common, complex diseases and their underlying pathways are abundant, especially with respect to the prospects of complex disease prevention and treatment, genetic counseling, and genomic medicine.
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3 Determining the Genetic Component of a Disease
Allison Ashley Koch1 and Evadnie Rampersaud2
1 Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC, USA
2 Center for Applied Bioinformatics, St. Jude Children’s Research Hospital, Memphis, TN, USA
