Scribd Logo
Upload

Welcome to Scribd!

  • 11 views

    Task 1.4.4 With Answers

    Uploaded by

    Reham Mohamed Omar
    This document summarizes a task analyzing linkage mapping in a Noonan syndrome pedigree. It finds that: 1) Several regions of the genome are shared among the two affected siblings but not the parents or unaffected siblings. 2) Of these shared regions, only three (on chromosomes 7, 15 and 22) are also homozygous by descent between the affected siblings. 3) If all four siblings were affected, there would be no regions homozygous by descent across all of them.

    Copyright:

    © All Rights Reserved
    Download as PDF, TXT or read online from Scribd
    Flag for inappropriate content

    You might also like

    Task 1.4.4 With Answers

    Uploaded by

    Reham Mohamed Omar
    11 views1 page
    This document summarizes a task analyzing linkage mapping in a Noonan syndrome pedigree. It finds that: 1) Several regions of the genome are shared among the two affected siblings but not the parents or unaffected siblings. 2) Of these shared regions, only three (on chromosomes 7, 15 and 22) are also homozygous by descent between the affected siblings. 3) If all four siblings were affected, there would be no regions homozygous by descent across all of them.

    Original Description:

    Original Title

    Task 1.4.4 with answers

    Copyright

    © © All Rights Reserved

    Available Formats

    PDF, TXT or read online from Scribd

    Did you find this document useful?

    Is this content inappropriate?

    Report this Document
    This document summarizes a task analyzing linkage mapping in a Noonan syndrome pedigree. It finds that: 1) Several regions of the genome are shared among the two affected siblings but not the parents or unaffected siblings. 2) Of these shared regions, only three (on chromosomes 7, 15 and 22) are also homozygous by descent between the affected siblings. 3) If all four siblings were affected, there would be no regions homozygous by descent across all of them.

    Copyright:

    © All Rights Reserved
    Download as PDF, TXT or read online from Scribd
    Flag for inappropriate content
    Download as pdf or txt
    11 views1 page

    Task 1.4.4 With Answers

    Uploaded by

    Reham Mohamed Omar
    This document summarizes a task analyzing linkage mapping in a Noonan syndrome pedigree. It finds that: 1) Several regions of the genome are shared among the two affected siblings but not the parents or unaffected siblings. 2) Of these shared regions, only three (on chromosomes 7, 15 and 22) are also homozygous by descent between the affected siblings. 3) If all four siblings were affected, there would be no regions homozygous by descent across all of them.

    Copyright:

    © All Rights Reserved
    Download as PDF, TXT or read online from Scribd
    Flag for inappropriate content
    Download as pdf or txt
    of 1

    Task 1.4.

    4 with answers – Linkage Mapping


    Watch lecture 1.4.4 and then complete this task before attempting the multiple-choice questions
    below.

    A file showing the likely gene-flow for the Noonan syndrome pedigree described in the linkage
    lecture is provided here .

    Task 1: Search for the regions of the genome where both chromosome copies are shared in the
    affected individuals (3 and 4) but not in the parents (1 and 2) or in the unaffected siblings (5 and
    6).

    Answer: There are several (at least 18) regions of genome for which both chromosomes are shared
    in the affected sibs but are not shared in the parents or the unaffected siblings.

    Task 2: Search for the regions of the genome that are shared in the affected individuals but not
    the unaffected sibs AND which are also homozygous by descent.

    Answer: Of the regions found to be shared in Task 1, only three of these regions are also
    homozygous by descent – on chromosomes 7, 15 and 22. (The chr22 region is where we found the
    pathogenic mutation in LZTR1; see family 12 in PMID: 29469822)

    Task 3: Imagine that a few years later it becomes apparent that all 4 siblings are affected. Are
    there any regions that are homozygous by descent in all 4?

    Answer: No candidate regions are shared homozygous in all 4 daughters

    Hint: try using formula option (e.g IF(CELL1=CELL2,1,0)) in xlsx or import into Rstudio/pandas or other
    data processing software if preferred.

    Please see the additional xlsx file for formulas/plots that can be used.

    You might also like