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Single-Gene Disorders PowerPoint Presentation

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Description : Check out this medical PowerPoint presentation titled "Single-gene Disorders".
This medical PowerPoint presentation talks about Single-gene disorders, also known as monogenic disorders.
Single-gene disorders are genetic disorders that result from mutations in a single gene. In other words, the genetic defect causing the disease is located in one specific gene, and a mutation in that gene is enough to cause the disorder.
These disorders can be inherited in one of several ways, including autosomal dominant, autosomal recessive, X-linked dominant, and X-linked recessive inheritance.
Examples of single-gene disorders include cystic fibrosis, sickle cell anemia, Huntingtons disease, and Duchenne muscular dystrophy.
Symptoms of single-gene disorders can vary widely, depending on the specific gene affected and the type of mutation. Treatment options for single-gene disorders can include medication, gene therapy, or stem cell transplantation, but may vary depending on the specific disorder and its severity. In some cases, the disorder may be managed but not cured.

Tags : Single-gene Disorders, monogenic disorders, cystic fibrosis, sickle cell anemia, Huntingtons disease, Duchenne muscular dystrophy, Genetics, Genetics PowerPoint presentation

Published on : Mar 21, 2023 | Views : 1808 | Downloads : 1

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Slide 1-

Single-gene Disorders
Slide 2-

Classification of genetic disorders Single-gene disorders (2%) Chromosome disorders (<1%) Multifactorial disorders (60%)
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Pedigree
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Pedigree
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Pedigree
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Pedigree symbols
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Types of Mutation
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Gene Mutationbase-pair mutation Nucleotide Substitutions (point mutations) Deletions Insertions
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Gene Mutationbase-pair mutation Nucleotide Substitutions (point mutations) silent mutations missense mutations (amino acid substitutions) nonsense mutations (premature stop codons) RNA processing mutations Regulatory mutations
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Gene Mutationbase-pair mutation Deletions and Insertions small number of bases is not a multiple of 3, cause frameshift is a multiple of 3, cause loss or gain of codons larger gene deletions, inversions, fusions insertion of L1 or Alu element dynamic mutations – triplet expansion
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Genetic disorders with classical Mendelian inheritance
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Autosomal dominant trait
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Autosomal dominant pedigree
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Huntington’s disease
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Huntington’s disease
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Huntington’s disease
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Huntington’s disease
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Autosomal recessive trait
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Autosomal recessive pedigree
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Cystic fibrosis
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Cystic fibrosis
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Cystic fibrosis
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X-linked recessive trait
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X-linked recessive trait
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X-linked recessive pedigree
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Hemophilia
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Hemophilia
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Hemophilia
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Literature Biology, eighth edition, Campbell, Reece Unit three: Genetics Chapter 14: Mendel and the Gene Idea Concept 14.4: Many human traits follow Mendelian patterns of inheritance Pages 276 – 279