of the Genome
Figure 2-8 A typical mitotic cell cycle, described in the text. The telomeres, the centromere, and sister chromatids are indicated. The cell cycle is governed by a series of checkpoints that determine…
Counseling in Clinical Practice
Established standards of medical care require that providers of genetic services obtain a history that includes family and ethnic information, inquire as to possible consanguinity, advise patients of the genetic…
and Phenotypes in Populations
Data from Martinson JJ, Chapman NH, Rees DC, et al: Global distribution of the CCR5 gene 32-basepair deletion. Nat Genet 16:100-103, 1997. On the basis of the observed genotype frequencies, we…
Genomics to Individualize Cancer Therapy
Figure 15-12 Schematic of an idealized gene expression profiling experiment of eight samples and 100 genes. Left, Individual arrays of gene sequences spotted on glass or silicon chips are used for comparative…
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…
