DNA Testing Explained

Chromosomes, DNA & Definitions:

Deoxyribonucleic acid (DNA) is the chemical inside the nucleus of all cells that carries the genetic instructions for making living organisms. A DNA molecule consists of two strands that wrap around each other to resemble a twisted ladder. The sides are made of sugar and phosphate molecules. The “rungs” are made of nitrogen-containing chemicals called bases. Each strand is composed of one sugar molecule, one phosphate molecule, and a base. Four different bases are present in DNA - adenine (A), thymine (T), cytosine (C), and guanine (G). The particular order of the bases arranged along the sugar - phosphate backbone is called the DNA sequence; the sequence specifies the exact genetic instructions required to create a particular organism with its own unique traits.

Each strand of the DNA molecule is held together at its base by a weak bond. The four bases pair in a set manner: Adenine (A) pairs with thymine (T), while cytosine (C) pairs with guanine (G). These pairs of bases are known as Base Pairs (bp).
These Base Pairs (bp) are the basis of Y-chromosome testing.

Chromosomes are paired threadlike bundles of long segments of DNA contained within the nucleus of each cell. In humans there are 23 pairs of chromosomes. In 22 pairs, both members are essentially identical, one deriving from the individual's mother, the other from the father. The 23rd pair is different. In females this pair has two like chromosomes called "X". In males it comprises one "X" and one "Y," two very dissimilar chromosomes. It is these chromosome differences which determine sex.

Human sex is determined by the X and Y chromosomes. A female has 2 X-Chromosomes and a male has an X and a Y-Chromosome. When a child is conceived it gets one chromosome from its mother and one chromosome from its father. The chromosome from the mother will always be an X, but the chromosome from the father may be either X or Y. If the child gets the X she will a girl, if the child gets the Y he will be a boy.
    The Y-Chromosome has certain unique features:
  1. The presence of a Y-Chromosome causes maleness. This little chromosome, about 2% of a father's genetic contribution to his sons, programs the early embryo to develop as a male.
  2. It is transmitted from fathers only to their sons.
  3. Most of the Y-Chromosome is inherited as an integral unit passed without alteration from father to sons, and to their sons, and so on, unaffected by exchange or any other influence of the X-Chromosome that came from the mother. It is the only nuclear chromosome that escapes the continual reshuffling of parental genes during the process of sex cell production.
  4. It is these unique features that make the Y-Chromosome useful to genealogists.
The Y-Chromosome has definable segments of DNA with known genetic characteristics. These segments are known as Markers. These markers occur at an identifiable physical location on a chromosome known as a Locus. Each marker is designated by a number (known as DYS#), according to international conventions. You will often find the terms Marker and Locus used interchangeably, but technically the Marker is what is tested and the Locus is where the marker is located on the chromosome.

Although there are several types of markers used in DNA studies, the Y-Chromosome test uses only one type. The marker used is called a Short Tandem Repeat (STR). STRs are short sequences of DNA, (usually 2, 3, 4, or 5 base pairs long), that are repeated numerous times in a head-tail manner. The 16 base pair sequence of "gatagatagatagata" would represent 4 repeats of the sequence "gata". These repeats are referred to as Allele. The variation of the number of repeats of each marker enables discrimination between individuals.

An individual's test results have little meaning on their own. You cannot take these numbers, plug them into some formula and find out who your ancestors are. The value of the test results depends on how your results compare to other test results. And even when you match someone else, it will only indicate that you and the person you match share a common ancestor. Depending on the number of markers tested and the number of matches it will indicate with a certain degree of probability how long ago this common ancestor existed. It will not show exactly who this ancestor is.

The Y-Chromosome is passed from father to son. The vast majority of the time the father passes an exact copy of his Y-Chromosome to his son. This means that the markers of the son are identical to those of his father. However, on rare occasion there is a mutation or change in one of the markers. The change is either an insertion or a deletion. An insertion is when an additional repeat is added to a marker. A deletion is when one of the repeats is deleted.

Mutations occur at random. This means it is possible for two distant cousins to match exactly on all markers while two brothers might not match exactly. Because of the random nature of mutations we must use statistics and probability to estimate the Time to the Most Recent Common Ancestor (TMRCA). The actual calculations of TMRCA are mathematically complex and depend on knowing the rate of mutation and the true number of mutations. At this time there is not enough data to accurately determine either of these factors so certain assumptions have to be made.