JAK2 V617F somatic mutation

Hello, a family member has the JAK2 V617F somatic mutation.

Here is an article on how your DNA can give you an increased chance for a somatic mutation.  I have a PDF of the full article;

New Genetic Findings for Rare Blood Cancers

 

 

Notes from the article;

  1.  A five to seven fold increase of MPN development was identified in first-degree relatives of patients with MPN.
  2. A germline haplogroup, GGCC or 46/1, in a section of the JAK2 gene is associated with a three to four fold increase risk of developing a V617F MPN.

 

And a video;

 

Individual SNPs associated with the JAK2 V617F mutation, these may be called V617F carriers.

rs59384377 = JAK2 46/1 haplotype

rs7705526 = TERT gene

rs7310615 = SH2B3

rs1548483 = upstream of TET2

 

 

NKX2-1 gene mutation

I just found a cousin with the NKX2-1 gene mutation.  This can be linked with different cancers and developmental issues.

 

Using SNPedia.com, there are eleven genes associated with this mutation;

 

Chromosome      position       RiskGeno
Rs137852692      36,517,781     Rs137852692(T;T)
Rs137852693      36,517,871     Rs137852693(C,T;C,T)
Rs137852694      36,517,739    Rs137852694(T;T)
Rs2076751          36,520,214
Rs28936671       36,517,757     Rs28936671(A;A)
Rs28936672       36,517,771     Rs28936672(T;T)
Rs387906404     36,517,576     Rs387906404(;)
Rs587776707      36,517,812     Rs587776707(CC;CC)
Rs587776708      36,518,022    Rs587776708(A,C;A,C)
Rs587776709     36,519,104     Rs587776709(C;C)
Rs863225300     36,517,960    Rs863225300(A;A)
The 23andMe.com DNA tests check two of the sites:

Rs28936671 36,517,757
Rs28936672 36,517,771

 

Poppke DNA on Chromosome 1

Poppke Felchle DNA

I’m trying to find our Poppke grandfather’s family through DNA analysis.
We currently have four Poppke grandchildren tested and on GedMatch.com.
For Poppke elimination, we have a Felchle 2nd cousin and a 2nd cousin one removed.

These posts will look at the evidence one chromosome at a time.

For Chromosome 1, if you look just at the four Poppke grandchildren, there are several areas where one first cousin matches with one other first cousin. But nothing greater than that. On chromosome 1, the matches appear to be good with the Felchle family side.

In detail,

A Poppke grandchild matching with two Felchle 2nd cousins on

67,778,231 80,858,587

Two Poppke grandchildren matching with a Felchle 2nd cousin on

239,001,460 247,137,334

Gurr Lynn DNA

Hello,

Gurr and Lynn family matches in DNA!

Busy checking genes on 23andMe dot com.

Found a good match with a 2nd cousin, once removed

Here is what we share;

Chromosome Start Point End Point Dist SNP
1 32,557,673 67,919,086 41 6,695
11 117,759,825 134,940,416 33 4,476
12 69,645,566 78,682,293 10 1,879
19 32,728,540 45,247,627 16 2,134
19 51,338,384 59,087,479 24 1,860
20 4,731,547 14,484,466 21 2,634

Look me up on Gedmatch dot com.

Kit number M008391.

On the maternal side, we have good family trees going back to Europe.

 

Laib DNA

Laib DNA can be seen in distant cousins that are confirmed in genealogy and then also match genetics;

Chromosome Start point End point Genetic distance # SNPs

Person 1 and I:
Chrom Start and End Dist SNPs
17 70000000 75000000 10.6 cM 1117
19 28000000 46000000 23.5 cM 3131

Person 2 and I;
1 102000000 110000000 8.0 cM 1379
2 236000000 240000000 9.6 cM 1137
17 38000000 48000000 9.3 cM 1688
19 39000000 46000000 10.1 cM 1218

It looks like the segments on Chromosomes 17 and 19 would be good indicators of a Laib cousin relationship.