Medical Genetics

Learn about Mendelian genetics, linkage analysis, hereditary cancer, tumor suppressor, oncogenes and how to identify a defective gene in a family.

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  • Description
  • Features

In the Medical Genetics Lab, you will learn about Mendelian genetics, linkage analysis and finding the defected gene in a family with hereditary breast cancer. You will also learn about the genetics and development of cancer.

Constructing pedigree

Your first task is to construct a family pedigree based on gathered information. You will learn how to read a family pedigree and determine whether or not traits are hereditary. You will take a visit to the hospital and talk with a doctor to learn about hereditary cancer, Knudson two hits hypothesis and identifying genes that cause hereditary breast cancer a family.

Linkage analysis

Next, you will arrive in the laboratory to begin experimentation. You will begin with a linkage analysis using four microsatellite markers that are located close to BRCA1 and BRCA2 genes. Then you will perform PCR to amplify the microsatellite markers and analyze their genotype using gel electrophoresis. Analyzing the genotypes from family members, you will be able to determine which gene is linked to hereditary breast cancer in this family.

Protein Truncation Test

In breast cancer, mutations in BRCA1 or BRCA2 genes often result in protein truncation. In order to check if there is a mutation in BRCA1 or BRCA2 genes, you will perform Protein Truncation Test (PTT) comparing protein synthesized from the patient’s DNA versus a healthy control. By comparing the resulting protein in polyacrylamide gel electrophoresis, you will be able to conclude whether the patient has a truncated protein.

DNA sequencing

After receiving the PTT result, you need to perform a validation experiment to find out the exact mutation causing the truncated protein. You will perform DNA sequencing of this specific gene and analyze the results. To complete the analysis, you will perform a validation experiment to find the exact mutation causing truncated proteins. You will perform DNA sequencing of this specific gene and analyze the results.

Cancer: from DNA to metastasis

The Medical Genetic lab ends with a series of quiz questions assessing uour comprehension in topics regarding cancer, oncogenes, tumor suppressor and DNA repairs. Supplementary 3D animation is provided to visually portray cancer progression—defective cells divide uncontrollably and form lumps giving rise to breast cancer and subsequently metastasize to distant tissue in the body.

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Learn about Mendelian genetics, linkage analysis, hereditary cancer, tumor suppressor, oncogenes and how to identify a defective gene in a family.

Techniques in lab
Gel electrophoresis, PCR, DNA sequencing, Protein Truncation Test
Learning objectives

At the end of this simulation, you will be able to...

  • Understand Mendelian genetics and know how to perform linkage analysis
  • Perform PCR and gel electrophoresis
  • Understand the basics of breast cancer, tumor suppressor, oncogenes and BRCA1/2
  • Understand the genetic event underlying breast cancer
Simulation features

Length: 52
Accessibility mode: Not available
Languages: English (United States)

NGSS

HS-LS3-1, HS-LS3-2, HS-LS3-3

IB

No direct alignment

AP

No direct alignment