References
General References Higgs DR, Engel JD, Stamatoyannopoulos G. Thalassaemia. Lancet. 2012;379:373–383. Higgs DR, Gibbons RJ. The molecular basis of α-thalassemia: a model for understanding human molecular genetics. Hematol Oncol Clin…
Relationship between Genotype and Phenotype in Genetic Disease
Allelic heterogeneityThe occurrence of more than one allele at a locusα-Thalassemiaβ-Thalassemia Locus heterogeneityThe association of more than one locus with a clinical phenotypeThalassemia can result from mutations in either the α-globin…
Mutations Disrupt the Formation of Biologically Normal Proteins
LDL, Low-density lipoprotein; mRNA, messenger RNA.
Effect of Mutation on Protein Function
Figure 11-1 A general outline of the mechanisms by which disease-causing mutations produce disease. Mutations in the coding region result in structurally abnormal proteins that have a loss or gain of function…
Associated with Genomic Imprinting
Figure 6-7 Prader-Willi syndrome (PWS) and Angelman syndrome (AS). A, PWS in a -year-old boy with obesity, hypogonadism, and small hands and feet who also has short stature and developmental delay. B,…
References
General References Altshuler D, Daly MJ, Lander ES. Genetic mapping in human disease. Science. 2008;322:881–888. Manolio TA. Genomewide association studies and assessment of the risk of disease. N Engl J…
for Specific Topics
References for Specific Topics Abecasis GR, Auton A, Brooks LD, et al. An integrated map of genetic variation from 1,092 human genomes. Nature. 2012;491:56–65. Bainbridge MN, Wiszniewski W, Murdock DR,…
Genes Responsible for Disease by Genome Sequencing
Figure 10-12 Representative filtering scheme for reducing the millions of variants detected in whole-genome sequencing of a family consisting of two unaffected parents and an affected child to a small number…
Gene Mapping to Gene Identification
Figure 10-11 “Manhattan plot” of genome-wide association studies (GWAS) of age-related macular degeneration using approximately 1 million genome-wide single nucleotide polymorphism (SNP) alleles located along all 22 autosomes on the x-axis. Each…
