Mutations: Unstable Repeat Expansions
Figure 7-20 Graph correlating approximate age of onset of Huntington disease with the number of CAG repeats found in the HD gene. The solid line is the average age of onset, and…
Recurrence Risks
Incidence of First Birth Defect in Sibship (per 1000)Incidence of Recurrence of Any Birth Defect in Subsequent Children in Sibship (per 1000)First-cousin marriage3668Nonconsanguineous marriage1530 Data from Stoltenberg C, Magnus P,…
That Disturb Hardy-Weinberg Equilibrium
Thus, less than 2% of all the mutant alleles in the population are in affected homozygotes and would therefore be exposed to selection in the absence of effective treatment. Reduction…
Pharmacogenomics
Figure 18-2 Contribution of individual cytochrome P-450 enzymes to drug metabolism. For many drugs, the action of a cytochrome P-450 is to begin the process of detoxification through a series of…
of Common Multifactorial Diseases with a Genetic Contribution
Figure 8-5 Diagram of various flow lesions seen in congenital heart disease. Blood on the left side of the circulation is shown in red, on the right side in blue. Abnormal…
Aggregation and Correlation
The more distantly related two members of a family are, the fewer alleles they will have in common, inherited from a common ancestor. Figure 8-2 Allele sharing at an arbitrary locus…
Current State of Treatment of Genetic Disease
Figure 13-1 The various levels of treatment that are relevant to genetic disease, with the corresponding strategies used at each level. For each level, a disease discussed in the book is given…
Hemoglobins
Figure 11-2 The structure of a hemoglobin subunit. Each subunit has eight helical regions, designated A to H. The two most conserved amino acids are shown: His92, the histidine to which the…
Screening in Populations
Figure 18-1 Cumulative incidence (per 10,000) of colon cancer versus age in individuals with and without a family history of the disease. The challenge going forward is to screen populations, independent…
