a scientific approach to finding our ancestors

including HILL, HILLS, and other variants of the surname HILL


Understanding the Mutational Probabilities
of a Known Common Ancestor

Regarding mutations within your own well-researched, well-known, and otherwise proven lineage, it is possible for two distant cousins to exactly match on all markers while two brothers might not match exactly. This is the effect of the random nature of the mutations. We do not know when they will occur but we know that they must occur sometime. And in that generation, when the mutation occurs, the son will have a one step change from the father and a one step change from any brothers.

Because of the random nature of mutations we must use statistics and probability to understand the expected mutations in any given lineage or family of lineages. The understood average rate of mutation is .002 (or 1/500). This assumes that any given marker has a .002 chance of mutating with each birth of a son (DNA transmission). In other words, we could expect any specific marker to mutate once in 500 generations but since we test 25 markers we have 25 times the chances of a mutation. Without fully understanding this, participants may jump to the conclusion that their 24/25 mismatch to their own well-researched, well-known and otherwise proven lineage could only happen once in 500 generations. This is grossly wrong, because the mutation rate is applicable to a count of markers, and DNA transmissions, NOT the participant's DNA matched or mismatched total results. By example, if a 25 Marker participant is the seventh generation (six DNA transmissions) from their earliest known ancestor, there would be 0.3 expected mutations in the 6 births in the line from the MRCA (most recent common ancestor) to the participant. Also by example, if the same 25 Marker participant and four other same-generation descendants from four other sons of the MRCA participate in the 25 Marker test, there would be 1.5 expected mutations in this expanded test of the family.

So, the reality is that several mutations must be expected in families that have more than 20 DNA transmissions and use the 25 marker test. Cases have even been noted to have two mutations in one line and none in four other lines within the same family. The time to become concerned is when you find 3 or more mutations and you have 6 or fewer DNA transmissions in the line.

Participants who are using Windows compatible browser may be able to view and use the Mutation Calculator found at the following link to determine their own expected number of mutations in their lineage: members.aol.com/dnafiler/MutationCalculator.exe

Unique Characteristics of DYS #439

The unique characteristic of marker DYS #439 has to do with its rapid mutational rate. About 25% of the mutations in the first 12 markers take place in marker #439...thus indicating a faster mutation rate than most of the others. Therefore, if you find a mismatch on marker #439 between 2 participants, and all other markers match, then you have a very good likelihood of a connection and can discount the mismatch of this marker in your analysis. Your conclusions may also be strengthened by good research and documentation if it indicates possible relationships between the two participants.

Unique Characteristics of DYS #389-1 and DYS #389-2

The unique characteristics of markers DYS #389-1 and DYS #389-2 have to do with the manner in which scientists code these two markers. Marker #389-2 is the sum total of the scores for both markers #389-1 and #389-2. You will find that in most instances, marker #389-1 will be scored at 13 and marker #389-2 at 29 (13+16). If there is a 1 point increase in marker #389-1 (from 13 to 14), it results in a corresponding increase in marker #389-2 (from 29 to 30), when in fact the actual score (16) for marker #389-2 never changed...only its cumulative total (14+16=30). In this instance, the increase in marker #389-2 should not be counted in your analysis as a change. If, however, marker #389-1 is the same for you (13) and another participant, but there is a one point increase in marker #389-2 for either of you, then marker #389-2 (13+17=30) is considered as a mismatch. Confusing, isn't it?

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