Osteogenesis imperfecta oTesting methods: Next-generation sequencing, Sanger sequencing, Southern blot Mitochondrial mutations oInherited from mother oMitochondria contain their own genome with 37 genes Mutations in this mitochondrial genome can affect energy production Disease manifest in energy-demading organs (muscles, nervous system) oExample: Kearns-Sayre syndrome oTesting methods: Southern blot, PCR, PCR-RFLPs, sequencing Genomic imprinting oInherit only one working copy of a gene instead of two oUniparental disomy: inheritance of chromosomal material from only one parent due to abnormal chromosome separation during meiosis Chromosome 15 Prater-Willi syndrome = deletion from paternal chromosome Angelman syndrome = deletion from maternal chromosome oTesting methods: cytogenetics, karyotyping, FISH, PCR-RFLPs, STR analysis VI.Limitations of Molecular Testing Molecular testing may uncover genetic mutations in the absence of symptoms Not always able to predict the severity of the phenotype oEspecially in genes with variable expressivity Treatments often directed to phenotype, not always necessary to know genotype
91 Homework: Molecular Detection of Inherited DiseasesComplete the questions based on the virtual animations then complete the corresponding assignment in Blackboard. Your Genes, Your Health: Hemophilia Website: Answer the following questions based on the virtual activity. 1.Hemophilia is caused by a dysfunctional or absent blood-clotting ____________________. 2.Which factor is present, but slightly dysfunctional in people with mild to moderate hemophilia A? 3.The factor 8 gene is located on what chromosome? 4.Which factor is often absent in people with severe hemophilia A? 5.People with severe hemophilia A have a bigger mutation that those with mild to moderate hemophilia A. What kind of mutation do they have? 6.Which factor is affected in hemophilia B? 7.In severe hemophilia B, factor 9 is completely ________________. 8.A boy gets hemophilia when he inherits an X chromosome with a mutated factor gene from his ________________. 9.Can a boy get hemophilia if his mother does not carry a mutated factor gene? 10.Why do girls rarely develop hemophilia? 11.________________ is a normal process in all females, where every cell in the early embryo inactivates one of the two X-chromosomes. 12.If a mother that is a carrier and an unaffected father have a child, what are the chances they will have a boy with hemophilia? 13.If a father who has hemophilia has a child with an unaffected mother, what are the chances they will have a girl who is a carrier? 14.What percentage of people with severe hemophilia A have an inversion mutation?
92 15.In the gel electrophoresis example showing inverted bands vs. normal bands, which family members are carriers? Which family members are not carriers?
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