What does it mean to have a Y-DNA Haplogroup "R-M512"? [closed]

Question

I did a DNA test to learn about my origins, but the results are highly technical.

I see I have a Y-DNA Haplogroup R-M512 and a mutation (zero marker in DYS448). I Googled these terms and came across a bunch of technical papers, but I don't have the expertise in Genetics to make much sense of them.

I wonder if one of you can shed light on this?

Answer 1

Normally Humans inherit from each parent one sex determine Chromosome. If you have a XX chromosome pair you are female. If you have a XY pair you are male. Therefore the Y-Chromosome get only passed on from father to son. The Chromosomes itself consist of DNA. The DNA consists of base pairs in which an A only pairs with a T and a C only pairs with a G. The Y-Chromosome has about 57 million of these base pairs. DNA is normally relative stable but from time to time only one of these base pairs randomly changes from a C-G base pair to an A-T base pair. This phenomenon is called a pointmutation. So imagen two brothers. One has the unchanged Y-Chromosome of their father the other has one this pointmutations. So the descendants of the one Brother have the same Y-Chromosome, with exception of the pointmutation, the same Y-Chromosome. This is called a Single Nucleotide Polymorphisms (SNP). In the millennia the Y-Chromosomes acquire more and more of these SNPs. One combination of these SNPs is called a Haplogroup. By the amount of SNPs and the kind of them you can reconstruct which Haplogroup descended from which one. You have the Haplogroup R-M512 which is a rather old one (https://upload.wikimedia.org/wikipedia/commons/d/d4/R1a._Info-19.05.2014.jpg) and could be found in great area. M512 is actually the name of the last SNP that defines your Haplogroup. Here some people had write down which Haplogroup they belong to. By the ethnicity of the name you can assume how far it is spread ( https://www.familytreedna.com/public/R1a?iframe=ysnp ). Another Name would be R1a1a. Maybe these papers help you more to understand the nomenclature ( http://www.ncbi.nlm.nih.gov/pmc/articles/PMC155271/ http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1288547/ ).
Short tandem repeats (STR) are small DNA sequences that repeat multiple times. On the Y-Chromosome these STR can be referred to as DNA Y-chromosome Segments (DYS). DYS448 has the sequence AGAGAT with 20 to 26 repeats. Here ( http://cstl.nist.gov/strbase/ystrpos1.htm ) is visualized where actually it is located on the Y-Chromosome. In your case the laboratory was not able to measure any repeats.