Recurrence Risks
Figure 16-1 Pedigree of a family with an autosomal recessive condition. The probability of being a carrier is shown beneath each individual symbol in the pedigree. In contrast to single-gene disorders, the…
Human Disease Genes
Fortunately, the factorial terms are always the same in the numerator and denominator of the likelihood ratio, and therefore they cancel each other out and can be ignored. If θ…
Basis for Linkage Analysis and Association
Figure 10-1 The effect of recombination on the origin of various portions of a chromosome. Because of crossing over in meiosis, the copy of the chromosome the boy (generation III) inherited from…
Sex Chromosomes and Their Abnormalities
Figure 6-8 The process of sex determination and development: establishment of chromosomal sex at fertilization; commitment to the male or female pathway of gonadal differentiation; sex-specific differentiation of internal and external…
Hemoglobinopathies
Figure 11-5 Scanning electron micrographs of red cells from a patient with sickle cell disease. A, Oxygenated cells are round and full. B, The classic sickle cell shape is produced only when…
Patterns of Mendelian Inheritance
The wild-type allele is denoted by uppercase R, a mutant allele by lowercase r. As seen in the table, when both parents of an affected person are carriers, their children’s…
for Genetic Susceptibility to Disease
*The values of a, b, c, and d are derived from a random sample of the population, divided into those with and without the susceptibility genotype, and then examined for…
of Structural Proteins
Figure 12-16 Pseudohypertrophy of the calves due to the replacement of normal muscle tissue with connective tissue and fat in an 8-year-old boy with Duchenne muscular dystrophy. See Sources & Acknowledgments….
to Increase the Function of the Affected Gene or Protein
Figure 13-7 The molecular treatment of inherited disease. Each molecular therapy is discussed in the text. ADA, Adenosine deaminase; ASO, antisense oligonucleotide; ERT, enzyme replacement therapy; Hb F, fetal hemoglobin; mRNA, messenger…
