Results 1 to 3 of 3

Thread: Recurrent Mutations

  1. #1
    Registered Users
    Posts
    37
    Sex
    Location
    Texas
    Ethnicity
    British Isles
    Nationality
    US
    Y-DNA (P)
    R1b - DF27+, Y5058+
    mtDNA (M)
    T2b4 - T152C!

    Ireland England Scotland

    Recurrent Mutations

    With the significant number of Y positions now being tested by FGC, BigY or other “NGS” type of technology, it would seem the possible occurrence (or discovery) of recurrent mutations might increase dramatically every year as more individuals are tested. When single SNPs were tested with Sanger sequencing it was unlikely a test would be performed for a SNP in a different Haplogroup; but initially with chip based sequencing such as Geno, and now with “NGS” type sequencing, there are so many more SNPs tested in multiple Haplogroups that the discovery of recurrent mutations (forward, back or deletion) is bound to occur.

    Even though these recurrent SNPs are unreliable as a single terminal SNP test they may still be significant in determining branches or in finding closer Y relatives. I hope that (with in reason) ISOGG continues to use the “.n” or “_n” SNP extensions, that the SNP DNA companies continue to offer Sanger sequencing of them, and that these SNPs continue to be incorporated in the Haplotrees where appropriate.

    Mike McG

  2. #2
    Gold Class Member
    Posts
    347
    Sex
    Location
    Ohio
    Ethnicity
    German
    Nationality
    Galactic Empire
    Y-DNA (P)
    R-Z324, Z5055, L188+
    mtDNA (M)
    H5

    Quote Originally Posted by Mike McG View Post
    Even though these recurrent SNPs are unreliable as a single terminal SNP test they may still be significant in determining branches or in finding closer Y relatives. I hope that (with in reason) ISOGG continues to use the “.n” or “_n” SNP extensions, that the SNP DNA companies continue to offer Sanger sequencing of them, and that these SNPs continue to be incorporated in the Haplotrees where appropriate.

    Mike McG

    Recurrent SNPs should be considered unreliable as a terminal SNP if they flip within the same haplogroup branch and not whether they have multiple occurrences across the y-haplogroup tree.. The measure for a terminal SNP should be stability within the context that it is found. Testing will be available for most recurrent SNPs since the odds are good that their position will be covered by sequencing efforts for other nearby SNPs.

  3. The Following User Says Thank You to Cofgene For This Useful Post:

     dp (03-04-2015)

  4. #3
    Registered Users
    Posts
    219
    Sex
    Location
    Houston, TX
    Y-DNA (P)
    R-FGC41890
    mtDNA (M)
    H49a1

    England Ireland Germany Imperial Scotland Switzerland Sweden
    I think the particularly reason why they recurrent is important. If they are just random occurences of convergent evolution, that's fine, but if the supposed SNP is in or adjacent an STR or located in a psuedoautosomal region then you can have problems, especially when building phylogenetic trees.

  5. The Following User Says Thank You to Huntergatherer1066 For This Useful Post:

     dp (03-04-2015)

Similar Threads

  1. Replies: 5
    Last Post: 07-27-2019, 01:53 AM
  2. EDAR mutations
    By Chad Rohlfsen in forum Anatomy and Physiology
    Replies: 1
    Last Post: 05-29-2019, 02:27 PM
  3. SNP Mutations and the causes
    By Saad2016 in forum General
    Replies: 0
    Last Post: 04-10-2018, 01:15 AM
  4. Replies: 6
    Last Post: 11-17-2015, 10:36 PM
  5. Replies: 7
    Last Post: 04-18-2013, 10:44 PM

Posting Permissions

  • You may not post new threads
  • You may not post replies
  • You may not post attachments
  • You may not edit your posts
  •