Basicmedical Key

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…

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…

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…

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…

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,…

ADA, Adenosine deaminase; Hb, hemoglobin; IV, intravenous; PEG, polyethylene glycol; SCID, severe combined immunodeficiency; WAS, Wiskott-Aldrich syndrome. In this section, we outline the potential, methods, and probable limitations of gene…

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…

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…

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…

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…