Basicmedical Key

Useful Websites Mutation Databases Clinical and functional translation of CFTR (CFTR2 project). http://www.cftr2.org/. Collagen mutation database. http://www.le.ac.uk/genetics/collagen/. Cystic fibrosis and CFTR gene mutation database. http://www.gene.sickkids.on.ca/cftr/. Human mitochondrial genome database. http://www.gen.emory.edu/mitomap.html….

References to Specific Topics Bettens K, Sleegers K, Van Broeckhoven C. Genetic insights in Alzheimer’s disease. Lancet Neurol. 2013;12:92–104. Blau N, Hennermann JB, Langenbeck U, et al. Diagnosis, classification, and…

General References Hamosh A: Online mendelian inheritance in man, OMIM. McKusick-Nathans Institute of Genetic Medicine, Baltimore, MD, Johns Hopkins University. Available at http://omim.org/. Lupski JR, Stankiewicz P. Genomic disorders: the…

Concluding Comments Despite the substantial progress in our understanding of the molecular events that underlie the pathology of the unstable repeat expansion diseases, we are only beginning to dissect the…

Figure 12-15 The structure of the CFTR gene and a schematic of the CFTR protein. Selected mutations are shown. The exons, introns, and domains of the protein are not drawn to scale….

Figure 12-1 Examples of the classes of proteins associated with diseases with a strong genetic component (most are monogenic), and the part of the cell in which those proteins normally function….

8. Mutations in noncoding sequences may change the number of protein molecules produced, but each protein molecule made will generally have a normal amino acid sequence. Give examples of some…

References for Specific Topics Bauer DE, Orkin SH. Update on fetal hemoglobin gene regulation in hemoglobinopathies. Curr Opin Pediatr. 2011;23:1–8. Ingram VM. Specific chemical difference between the globins of normal…

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…

 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…