TAILIEUCHUNG - Chapter 062. Principles of Human Genetics (Part 20)

Figure 62-10 Segregation of alleles. Segregation of genotypes in the offspring of parents with one dominant (A) and one recessive (a) allele. The distribution of the parental alleles to their offspring depends on the combination present in the parents. Filled symbols = affected individuals. Autosomal Dominant Disorders Autosomal dominant disorders assume particular relevance because mutations in a single allele are sufficient to cause the disease. In contrast to recessive disorders, in which disease pathogenesis is relatively straightforward because there is loss of gene function, dominant disorders can be caused by various disease mechanisms, many of which are unique to the function of. | Chapter 062. Principles of Human Genetics Part 20 Figure 62-9 Sou F uo AS. K Jp r DL. unnild E H ui r Lonso DL. Ji mi on JI. LolCiltO Jl frhocÿhitf 0 Fnt mal H dk M 17th Edition http w v s I mt d tin 4. com Copvnflht 0 Th Mcljr u-HIH Cor p nl . tnc- All 1 Figure 62-10 Segregation of alleles. Segregation of genotypes in the offspring of parents with one dominant A and one recessive a allele. The distribution of the parental alleles to their offspring depends on the combination present in the parents. Filled symbols affected individuals. Autosomal Dominant Disorders Autosomal dominant disorders assume particular relevance because mutations in a single allele are sufficient to cause the disease. In contrast to recessive disorders in which disease pathogenesis is relatively straightforward because there is loss of gene function dominant disorders can be caused by various disease mechanisms many of which are unique to the function of the genetic pathway involved. In autosomal dominant disorders individuals are affected in successive generations the disease does not occur in the offspring of unaffected individuals. Males and females are affected with equal frequency because the defective gene resides on one of the 22 autosomes Fig. 62-11A . Autosomal dominant mutations alter one of the two alleles at a given locus. Because the alleles segregate randomly at meiosis the probability that an offspring will be affected is 50 . Unless there is a new germline mutation an affected individual has an affected parent. Children with a normal genotype do not transmit the disorder. Due to differences in penetrance or expressivity see above the clinical manifestations of autosomal dominant disorders may be variable. Because of these variations it is sometimes challenging to determine the pattern of inheritance. Figure .

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• Mendels principles of heredity