Laboratory 5.docx - Laboratory 5 Clinical Significance of...

Info icon This preview shows pages 1–3. Sign up to view the full content.

Laboratory 5. Clinical Significance of Human Genetic Variation Human genetic variation refers to the genetic differences in and among populations. The Genetic Variation Program at the National Human Genome Research Institute has established that ‘about 99.5 percent of a person’s DNA is the same as any unrelated person’s DNA.’ There may be multiple variants of any given gene in the human population (alleles), a situation called polymorphism. No two humans are genetically identical. Genetic variation determine some of the differences in physical traits among people (eye color, blood group…) as well as the likelihood to develop particular diseases. It is estimated that the 1000 Genomes Project had characterized 99 percent of variants with a frequency of 1 percent or higher. This may give the impression that most clinically useful genetic variation has been resolved, but this is not the case as only 11 out of the 1372 curated genes in the database maintained by Clinical Genome Resource benefit from ‘strong clinical validity’ for the causal relationship between known genetic variation and a human disease. Most associations between gene variants and human diseases benefit from a low level of evidence and therefore remain questionable. In this laboratory, you will access to and query online databases of gene variants to answer questions of clinical relevance. This laboratory is to be considered as a stand-alone unit, though it is also an opportunity to consolidate concepts related to population genetics and statistical analysis that had been covered in previous laboratories. LEARNING OUTCOMES Theory · Define the following concepts: gene variants, clinical evidence for a variant- disease association, single nucleotide polymorphism, synonymous and non synonymous mutations, monogenic disease, intra and interpopulation heterozygosities; · Describe the information contained in the Clin Var, dbSNP and 1000 Genomes Project archives. Hands-on experience · Access to and query curated, public repository databases of gene variants and their clinical relevance; · Use software tools to analyze and sort out information from repository databases of gene variants. PRE-LAB ACTIVITIES
Image of page 1

Info icon This preview has intentionally blurred sections. Sign up to view the full version.

Complete the pre-laboratory quiz 5 prior to your entry in the laboratory. The quiz will cover information in the present document and an overview of the statistical analysis of population genetics ( ). The concepts discussed in this later document will be useful to assess genetic inbreeding and differentiation within and among human populations. INTRODUCTION Sequence variation is of scientific interest to investigate relationships among genetic variation and phenotype . These genetic variations can be of several types from simple point mutations to structural variations involving the duplication (microsatellite repeats) or the deletion of larger DNA fragments (thousands of base pairs) or even chromosomal fragments (millions of base pairs). This laboratory largely focusses on the assessment of the clinical
Image of page 2
Image of page 3
This is the end of the preview. Sign up to access the rest of the document.

{[ snackBarMessage ]}

What students are saying

  • Left Quote Icon

    As a current student on this bumpy collegiate pathway, I stumbled upon Course Hero, where I can find study resources for nearly all my courses, get online help from tutors 24/7, and even share my old projects, papers, and lecture notes with other students.

    Student Picture

    Kiran Temple University Fox School of Business ‘17, Course Hero Intern

  • Left Quote Icon

    I cannot even describe how much Course Hero helped me this summer. It’s truly become something I can always rely on and help me. In the end, I was not only able to survive summer classes, but I was able to thrive thanks to Course Hero.

    Student Picture

    Dana University of Pennsylvania ‘17, Course Hero Intern

  • Left Quote Icon

    The ability to access any university’s resources through Course Hero proved invaluable in my case. I was behind on Tulane coursework and actually used UCLA’s materials to help me move forward and get everything together on time.

    Student Picture

    Jill Tulane University ‘16, Course Hero Intern