Download Free Medical Single-Gene Disorders PowerPoint Presentation

Single-Gene Disorders PowerPoint Presentation

DOWNLOAD MEDICAL POWERPOINT PRESENTATION

About This Presentation

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 : 2465 | Downloads : 1

Shareable Url :

Embed Code :

Comment

Transcript

Slide 1-

Single-gene Disorders
Slide 2-

Classification of genetic disorders Single-gene disorders (2%) Chromosome disorders (<1%) Multifactorial disorders (60%)
Slide 3-

Pedigree
Slide 4-

Pedigree
Slide 5-

Pedigree
Slide 6-

Pedigree symbols
Slide 7-

Types of Mutation
Slide 8-

Gene Mutationbase-pair mutation Nucleotide Substitutions (point mutations) Deletions Insertions
Slide 9-

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
Slide 10-

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
Slide 11-

Genetic disorders with classical Mendelian inheritance
Slide 12-

Autosomal dominant trait
Slide 13-

Autosomal dominant pedigree
Slide 14-

Huntington’s disease
Slide 15-

Huntington’s disease
Slide 16-

Huntington’s disease
Slide 17-

Huntington’s disease
Slide 18-

Autosomal recessive trait
Slide 19-

Autosomal recessive pedigree
Slide 20-

Cystic fibrosis
Slide 21-

Cystic fibrosis
Slide 22-

Cystic fibrosis
Slide 23-

ppt slide no 23 content not found
Slide 24-

X-linked recessive trait
Slide 25-

X-linked recessive trait
Slide 26-

X-linked recessive pedigree
Slide 27-

Hemophilia
Slide 28-

Hemophilia
Slide 29-

Hemophilia
Slide 30-

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