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:

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

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

laboratories use the revised Cambridge the H strand can easily be separated from sequence (rCRS) as the reference. circle of DNA that consists of 16. Thus. mtDNA is present in beginning to end. the mitochondria present in most cells. is strands. the forensic analyst is primarily sequencing is the method of choice to interested in regions HV1 and HV2. mtDNA is relatively easy to work mammalian mtDNA has been estimated at with. and become skeletonized. coupled with the 5:7 x 10-8 substitutions per site per year conserved arrangement of genes. can be obtained without any a priori evolves particularly rapidly in many taxa. including errors in the original 1981 Anderson specific proteins and ribonucleic acids that sequence. 2. invertebrates. 1.569 base and then describes differences found at pairs. first. As a result.365) and the second.L. lost its samples) and evidentiary items and then soft tissues.569 and forensic analysts use these region. 1982). has a useful when an evidentiary biological sequence of 268 bp (73–340).coding nuclear wide variety of vertebrates and genes. has corrected a number of sequencing code for 36 gene products. mitochondrial DNA (HV). 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. fails.024–16. referred to as the heavy (H) and light (L) derived primarily from a human placenta. The former strand has the largest known as the Anderson sequence. means (Brown et al. with hundreds of the comparison of two specimens. It is also number of guanine nucleotides. knowledge about a particular species’ The high mutation rate in mtDNA may be mitochondrial DNA sequence. Conclusions There are several reasons why although the arrangement of genes is mtDNA markers have been used conserved. The reference mtDNA. The determine the origin of these samples. 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. a tooth. The non-coding control region. The two strands of the molecule are specific sites. revised reference sequence. has a sequence of 342 bp Mitochondrial DNA sequencing is also (16. whose purpose is to regulate numbers to compare all other specimens. most all four DNA building blocks. forensic analyst compares each specimen’s The mitochondrial genome is a closed mtDNA sequence to a reference sequence. 103-107 . All of these specimen is degraded by environmental bases (610 bp combined) are sequenced in factors or aging. Second. This the L strand by centrifugation. established in The genome contains regions that 1999.. for The control region contains two example. HV1. or a shaft of hair is found as polymorphic and described as hypervariable physical evidence. Its small size. Today. HV2. mitochondrial DNA replication. To avoid any confusion in high copy number. the overall mutation rate is high.  due partly to the by-products of metabolic 106 International Journal of Criminal Investigation. These known as the Cambridge reference sequence bases have the largest molecular weight of (CRS) or Oxford sequence. and nuclear DNA testing forensic mtDNA analysis. The analysis of mtDNA In case of a limited sample size. when only a small segment of segments of DNA that are highly bone. This means that data often which includes the displacement (D) loop. 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. report this total sequence information from Unlike nuclear DNA. extensively in criminal investigations. First The rate of synonymous substitutions in of all.

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

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