4 A4 Genetics are important to study not only to learn more about modes of inheritance but also to learn more about genetic diseases Often it is good to generate such maps to determine which genes are linked physically close to each other on the same chromosome Table 1 is a short list of cardiac issues and what genes affect them Genes affected Loci Channelopathies electro physiology Cardiac voltage gated sodium channel subunit SCN5A HERG KCNH2 MinK KCNE1 MiRP 1 KCNE2 KVLQTI KCNQ1 Nuclear envelope protein lamin A C Cardiac ryanodine receptor RyR2 Vascular extracellular matrix proteins Fibrillin 1 FBN 1 Elastin Transcription Factors GATA4 TBX1 TBX5 CSX NKX2 5 dHAND TFAP2 Signaling proteins Protein tyrosine phosphatase SHP 2 PTPN11 Jagged 1 Jag1 Myotonin protein kinase DMPK TAL Table 1 1 1 Cardiac Phenotype Syndrome Arrhythmia ventricular tachycardia and fibrillation SD Long QT and Brugada Cardiac arrhythmias SD Long QT Cardiac arrhythmias SD Long QT Cardiac arrhythmias SD Long QT Cardiac arrhythmias SD Long QT Conduction defects muscular dystrophy Emery Dreifuss Ventricular tachycardia Mitral or aortic valve regurgitation SD Marfan Aortic and systematic arterial stenosis Williams Cardiac septal defects DiGeorge velocardiofacial 17 Holt Oram me ASD VSD A V block Right ventricle hypoplasia Patent ductus arteriosus Char THAKORONGOR Conduction defects OVRA Pulmonary stenosis Noonan and LEOPARD Pulmonary artery stenosis Tetralogy of Fallot Alagille Arrhythmias and conduction defects myotonic muscular dystrophy 4 AAAAAAAAA4 1 On RyR2 and the Lamin A C gene If it was hypothesized that these genes are linked according to this chromosome map is that hypothesis correct E Yes the genes are far enough away from each other that they are considered linked G No the genes are in physical approximation with each other and as such are not linked H Yes the genes are close enough to each other that they are considered linked J No the genes are on opposite arms of the chromosome and thus are too far away to be linked 2 A scientist claimed that the HERG KCNH2 and Mink KCNE1 genes can both cause cardiac arrhythmias Does Table 1 support this claim A Yes because the table shows that both genes are associated with mitral or aortic valve regurgitation which in turn can lead to arrhythmias B Yes because along with MirP 1 KCNE2 and KVLQTI KCNQ1 these are two of the genes that are associated with cardiac arrhythmias C No because neither the HERG KCNH2 nor the MinK KCNE1 gene is associated with cardiac arrhythmias according to the table D No because only the MirP 1 KCNE2 and KVLQTI KCNQ1 genes are associated with cardiac arrhythmias based on the table 3 Is the statement genetic diseases are most likely to be found in Chromosome 1 supported by Figure 1 F Yes because Chromosome 1 is one of the longest chromosomes in the map and so is more likely to have the most genetic mutations and resulting diseases 4 A student predicted that cardiac septal defects are most likely to develop due to mutations in signaling proteins Does the information in Table 1 support this conclusion A Yes because the table shows that cardiac septal defects are associated with errors in signaling proteins like myotonin protein kinase DMPK B Yes because the table shows that cardiac septal defects are related to inborn errors like mutations in signaling proteins G Yes because the map shows that Chromosome 1 has some of the most significant mutations including HCM DCM and AGL H No because based on the map Chromosomes 16 17 18 and 19 have the greatest density of genetic mutations eses Part 2 J No because the probability of disorders is not indicated by the figure C No because the table shows that cardiac septal defects are associated with errors in the transcription factor GATA4 not in signaling proteins D No because the table shows that cardiac septal defects are not related to inborn errors but to environmental factors 5 A cardiac researcher discovers that right ventricle hypoplasia is actually caused by a variety of environmental factors including diet exercise and exposure to certain toxins This discovery contradicts evidence stated in which figure F Figure 1 which shows that right ventricle hypoplasia is caused by a mutation to the JAGI gene on Chromosome 20 G Figure 1 which indicates that all cardiac abnormalities are caused by mutations in the chromosomes H Table 1 which shows that environmental factor only lead to cardiac issues like conduction defects Table 1 which indicates that right ventric hypoplasia is caused by a mutation affectin transcription factors J Ma END OF SET STOP DO NOT GO ON TO THE NEXT UNTIL TOLD TO E