International Journal of Volume 1

Issue 2
Criminal Investigation 103-107


Lucian GORGAN*
“Al.I. Cuza” University of Iasi, Faculty of Biology,
22, Blvd. Carol I, 700506, Iasi, Romania

The DNA it is present in every cell of a person’s body, not only in the cell’s nucleus
but also in its cytoplasm, in mitochondria. Of great importance is the fact that the DNA is
identical in every cell of the person’s body, except for the rare occurrence of a mutation. As a
result, DNA can be taken from blood, saliva, sweat, skin cells, bone cells, or hair for
individual identification. Body fluids containing cells are often collected as biological
evidence. The many opportunities to obtain DNA evidence can be seen, for example, in the
number of places where saliva has been identified: a bite mark, an area licked, bed linens, a
mask worn, paper tissue, a washcloth, a cigarette butt, a toothpick, the rim of a bottle or can,
and even dental f loss. DNA evidence can also be collected from fingernail scrapings, the
inside and outside surfaces of a used condom, clothing, adhesive tape, a vaginal swab, an anal
swab, and an oral swab.
Keywords: DNA; forensic; marker; mitochondrial; evidence.

The basic DNA structure
DNA consists of two parallel spiral The base is the important identifying
strands that form a double-helix. Each part of a nucleotide. Each phosphate group
strand is actually a linked chain in which is linked to a sugar molecule, which, in turn,
the links consist of a very large number of is attached to one of the four nitrogen-
units called nucleotides. Every nucleotide containing bases. The phosphate group of
is made up of three smaller chemical each nucleotide is, with one exception in
compounds: a phosphate, a sugar, and a each strand, also chemically bonded to the
base. There are four different bases, which sugar molecule of the adjacent nucleotide,
are referred to by the first letter of their forming the polynucleotide chain. The
names: A (adenine), T (thymine), G exceptions are the uppermost phosphate
(guanine), and C (cytosine). A and G are molecule of the “a” (left) strand and the
double-ringed nitrogen-containing lowermost phosphate molecule of the “b”
compounds, called purines; T and C are (right) strand, which are each attached to
single-ringed nitrogen- containing only one sugar molecule (Kobilinski et al.,
compounds, called pyrimidines. 2007).

Nuclear and mitochondrial DNA
The offspring of sexually reproducing for example, within the nuclear genome one
organisms inherit approximately half of their allele at each locus came from the mother
DNA from each parent. This means that in and the other allele came from the father.
a diploid, sexually reproducing organism This is known as biparental inheritance.
Corresponding author:

inherited from both parents. noncoding portion of the chromosome being their numbers. The mitochondria are found in both plants and ring chromosome can be viewed as the face animals. referred to as noncoding smallest animal nuclear genome. have been exceedingly popular in phenotype). or chromosomes being considered includes the body parts from a mass disaster the X. 2. however. having received one of 1. the different paths. the parents of kidnapped children..1 billion base hypervariable 2 (HV2). they differ solely in mitochondria. from one generation to the next along ranging usually between 200 and 1000. and these genomes are Nuclear and mitochondrial DNA much smaller than the nuclear genome. with mitochondrial DNA molecule are bonded the latter including chloroplasts (cpDNA). the number of Finally. or the Y (Kobilinski et al. important exceptions. more technically. the coding and number of useful attributes that are not noncoding sequences are distributed found in nuclear genomes. the uniparentally typically contains two or three DNA inherited organelle genomes of molecules. However. and geometric located in a region referred to as the control arrangements are quite different. 104 International Journal of Criminal Investigation. In a mitochondrial ring chromosome and the cytoplasmic chromosome. of a clock with the base pairs numbered Organelle DNA typically occurs in the from 1 at the 12 o’clock position and form of supercoiled circles of double. the coding and noncoding mitochondria of a cell are composed of areas are entirely separate. even in sexually DNA molecule is approximately the same at reproducing species. The control region contains about chromosomes. which greatly affects their number of nucleotides in a mitochondrial applications in forensic situations. 2007). a partially decomposed depending on whether the set of body. There are two Each mitochondrial genome. the nuclear chromosomes and mitochondria varies greatly with the type cytoplasmic mitochondria are transferred of cell and stage of its development. By contrast. 103-107 . stranded DNA. ecological studies because they have a In nuclear DNA. with the complementary poly-nucleotide chains. chromosome. together. GORGAN. sizes. not all DNA is 16569 base pairs with very small variations. L. 23 pairs of D-loop). intermittently along the length of each DNA Although DNA in the nuclear double helix.100 base pairs and is divided into 2 every pair of homologous chromosomes distinct sections. plastids are only found in plants. 1. If circular DNA rings per mitochondrion. Furthermore. Molecular markers from whether or not they contribute to one or organelle genomes. the ends of each mitochondria (mtDNA) and plastids. forming a total of two or three both located outside the cell nucleus. proceeding clockwise to 16569. resulting in more base pairs. The nucleotides in coding and they lack in size they partially make up for noncoding portions of a chromosome are in number – a single human cell normally exactly alike in chemical composition and contains anywhere from 1000 to 10000 bonding characteristics. at between 15000bp and 17000bp that make up the genes. A typical region (also called the displacement loop or cell has 46 or. This number varies slightly unknown criminal. About 3. The various base pairs in the total complement of sequences of the control region nucleotides nucleotides are present in a set of 23 are the most useful in identifying an chromosomes. called coding the mammalian mitochondrial genome is sequences. and those whose function is approximately 1/10000 the size of the largely unknown. particularly animal more of the individual’s traits (named mtDNA. but what regions. hypervariable 1 (HV1) and from each parent. For consist of two types of nucleotides: those example.

and because each has the mtDNA. and a mixture containing a series of such samples can frequently be analyzed DNA fragments. No meiosis is involved in mtDNA CE instruments that are used for STR replication. different PCR products will be material (for example. nucleotide in its DNA. it is compared to a reference inherited solely from one’s mother. that is. from one generation HV1 and HV2. however. mitochondrial reduces the significance of a match in genes are inherited in a different manner forensic cases.ijci. http://www. mothers.1975). it is present in only two copies per label of the last base (ddNTP) added. however. Because both types of NTPs are that contain very little nucleated cellular present. from the reference sequence (Southern. work for all biological samples. sequence for mtDNA. a cell contains hundreds to thousands entire sequence of bases in the DNA region of copies of mtDNA. all genes are inherited as if each hypervariable region is first amplified. and mtDNA is passed on. instead. mtDNA contains no addition to the usual dNTP building blocks. recombination occurs on the mitochondrial For mtDNA sequencing. for the sequence of bases replication (dideoxyribo. STRs (Single Tandem Repeats) and is special types of nucleotides that stop DNA analyzed. but template. The particular regions of the why all sons and daughters have the same mtDNA genome sequenced are those that mitochondrial DNA (mtDNA) as their are the most variable among individuals. the hypervariable control regions virtually unchanged. MtDNA coming from the same person of her children. the DNA of chromosome. STR DNA typing does not triphosphates: ddNTPs) are also present. mtDNA is not sequence and therefore the same differences unique to an individual. Although nuclear DNA pair in length. a mitochondria come only from the mother’s process that determines the order (sequence) egg. in which. After the sequence purposes. they were a single unit. Methods for sequencing to the next through the maternal line of a DNA are usually performed with the same family. bones. and no new nucleotides STR analysis. MtDNA Each of the four ddNTPs is labeled with a f analysis can. in genes. hair. Because little or no genetic DNA analysis. all siblings and maternal or from a person with the same maternal relatives have the same mtDNA sequence. and terminated at different points on the DNA teeth) cannot be analyzed for STRs. When a to obtain some DNA typing information ddNTP is added to a growing segment of when samples contain DNA that is highly DNA instead of a dNTP. the cell. lineage is expected to have the same DNA and unlike nuclear DNA. it their own DNA genomes. and differences are Because a mother passes her mtDNA to all noted. different PCR and CE analysis alleles or independent assortment takes eISSN: 2247-0271 105 . mtDNA is considered to be is generated. In addition. CE then separates contains much more information than these fragments. from nuclear genes because the zygote’s MtDNA is analyzed by sequencing. (The father’s sperm contributes only of the DNA nucleotides within a DNA nuclear DNA to the new embryo. and therefore no segregation of analysis. frequently be used luorescent dye of a different color. For forensic examined can be obtained. is formed. DNA – SOURCE OF FORENSIC EVIDENCE Mitochondrial DNA The mitochondria are cytoplasmic Although this pattern of maternal structures involved in the process of energy inheritance is frequently helpful in missing production. mtDNA can be particu. DNA extension degraded or insufficient for nuclear DNA stops immediately. Older biological samples are added.) This is segment. Because only The amplified PCR product for each maternal DNA is present. each differing by one base for mtDNA. are used for this type of place. Although mitochondria contain persons or mass disaster investigations.lar region is then individually used considered haploid for mitochondrial in another PCR reaction.

Today. The determine the origin of these samples. HV1. with hundreds of the comparison of two specimens. coupled with the 5:7 x 10-8 substitutions per site per year conserved arrangement of genes. and become skeletonized. mitochondrial DNA replication. First The rate of synonymous substitutions in of all. fails. The two strands of the molecule are specific sites. when only a small segment of segments of DNA that are highly bone.569 base and then describes differences found at pairs..024–16.L. mitochondrial DNA (HV). has a sequence of 342 bp Mitochondrial DNA sequencing is also (16. Each base in the reference are involved in the structure and function sequence is assigned a number from 1 to of the mitochondrion as well as a control 16. Thus. The former strand has the largest known as the Anderson sequence. The reference mtDNA. 103-107 . laboratories use the revised Cambridge the H strand can easily be separated from sequence (rCRS) as the reference. All of these specimen is degraded by environmental bases (610 bp combined) are sequenced in factors or aging. first. and nuclear DNA testing forensic mtDNA analysis. The analysis of mtDNA In case of a limited sample size. including errors in the original 1981 Anderson specific proteins and ribonucleic acids that sequence. knowledge about a particular species’ The high mutation rate in mtDNA may be mitochondrial DNA sequence. forensic analyst compares each specimen’s The mitochondrial genome is a closed mtDNA sequence to a reference sequence. extensively in criminal investigations. or a shaft of hair is found as polymorphic and described as hypervariable physical evidence. circle of DNA that consists of 16. established in The genome contains regions that 1999. referred to as the heavy (H) and light (L) derived primarily from a human placenta. most all four DNA building blocks. The non-coding control region. As a result. To avoid any confusion in high copy number. Second.365) and the second. which is around ten that many pairs of universal primers will times the average rate of synonymous amplify regions of the mitochondria in a substitutions in protein. Mitochondrial DNA is often analyzed It would be very difficult to totally in cases when a body is found that has sequence exemplars (known reference undergone severe decomposition. GORGAN. the forensic analyst is primarily sequencing is the method of choice to interested in regions HV1 and HV2. has corrected a number of sequencing code for 36 gene products. means (Brown et al. 1982). This the L strand by centrifugation. HV2. 1. These known as the Cambridge reference sequence bases have the largest molecular weight of (CRS) or Oxford sequence. has a useful when an evidentiary biological sequence of 268 bp (73–340). a tooth. This means that data often which includes the displacement (D) loop. report this total sequence information from Unlike nuclear DNA.569 and forensic analysts use these region. lost its samples) and evidentiary items and then soft tissues. the overall mutation rate is high. Conclusions There are several reasons why although the arrangement of genes is mtDNA markers have been used conserved. can be obtained without any a priori evolves particularly rapidly in many taxa. Its small size. the mitochondria present in most cells. is strands. mtDNA is present in beginning to end. mtDNA is relatively easy to work mammalian mtDNA has been estimated at with. whose purpose is to regulate numbers to compare all other specimens. revised reference sequence.coding nuclear wide variety of vertebrates and genes. for The control region contains two example. invertebrates.  due partly to the by-products of metabolic 106 International Journal of Criminal Investigation. It is also number of guanine nucleotides. 2.

Journal of Molecular Palumbi.. A. M. C.. Higuchi.. M. mtDNA sequences are mutation rates mean that mtDNA generally commonly used in studies of phylogeny and shows relatively high levels of phylogeography. the mother. Prager. and Stoneking. Prager.. 2005. be tracked over time and space with relative Regardless of the cause. G. Nunno-Margolis Journal of the Linnean Society 26: H. U. John DNA and two perspectives on Wiley & Sons Ltd. Because there are fewer mtDNA is its general lack of copies of mtDNA to start with.M. S. Mitochondrial DNA George. in sexually reproducing contribution towards understanding the species. 20. E. Wang. evolutionary genetics. and Wilson.. W. Mitochon¬drial Freeland J.. R. 375—400.. These occur when the exactly the same mitochondrial genome as size of a population is temporarily reduced.. 11-71. M. Evolution 18: 225—239. L.. Helm- sequences of primates: tempo and mode Bychowski.. R. mtDNA is for example. Levine L. M. D. which means that offspring relatively sensitive to demographic events usually will have (barring mutation) such as bottlenecks. M. Wilson. As a result. E. will quickly recover. it is recombination. polymorphism and therefore will often Finally... 1985). R. it is effectively and among populations. Southern E. Inferring straightforward manner than nuclear past bottlenecks can make an important lineages. Journal of Molecular Biology 98. 1975. Even if the population transmitted from mothers to their offspring. are continuously pooling genes current genetic make-up of populations. Carr. DNA – SOURCE OF FORENSIC EVIDENCE respiration and also to less-stringent repair The effectively clonal inheritance of mechanisms compared with those acting on mtDNA means that individual lineages can nuclear DNA (Wilson et al. 32... a quarter of the population size of diploid The third relevant property of nuclear DNA. 1982.. A. M. http://www. from two individuals and undergoing recombination. C. References Brown.. K. S. M. R.ijci. Sage. these high ease.. it will have relatively This means that mitochondrial lineages can few surviving mitochondrial haplotypes be identified in a much more compared with nuclear genotypes. A. Gyllensten. 1985. Forensic DNA eISSN: 2247-0271 107 .. 503-517. following a disease outbreak or effectively a single haplotype that is a catastrophic event. Cann. and this is why. 2007. Molecular Ecology. of evolution. Biological Kobilinsky L. R. which. B. because mtDNA is haploid reveal multiple genetic lineages both within and uniparentally inherited. Detection of specific sequences among DNA fragments separated by Gel Electrophoresis..

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