Forensic identification

forensic evidenceidentificationforensic testing
This assertion is supported by the philosophy of friction ridge identification, which states that friction ridge identification is established through the agreement of friction ridge formations, in sequence, having sufficient uniqueness to individualize.

Francis Crick

CrickFrancis Harry Compton CrickFrancis H.C. Crick
It was clear to Crick that there had to be a code by which a short sequence of nucleotides would specify a particular amino acid in a newly synthesized protein. In 1956, Crick wrote an informal paper about the genetic coding problem for the small group of scientists in Gamow's RNA group. In this article, Crick reviewed the evidence supporting the idea that there was a common set of about 20 amino acids used to synthesize proteins. Crick proposed that there was a corresponding set of small "adaptor molecules" that would hydrogen bond to short sequences of a nucleic acid, and also link to one of the amino acids.

Glucose-6-phosphate dehydrogenase deficiency

G6PD deficiencyfavismG6PD
Other possibilities are direct DNA testing and/or sequencing of the G6PD gene. The Beutler fluorescent spot test is a rapid and inexpensive test that visually identifies NADPH produced by G6PD under ultraviolet light. When the blood spot does not fluoresce, the test is positive; it can be falsely negative in patients who are actively hemolysing. It can therefore only be done 2–3 weeks after a hemolytic episode. When a macrophage in the spleen identifies a RBC with a Heinz body, it removes the precipitate and a small piece of the membrane, leading to characteristic "bite cells".

California Institute of Technology

CaltechCalifornia Institute of Technology (Caltech)Cal Tech
In 1928, a division of biology was established under the leadership of Thomas Hunt Morgan, the most distinguished biologist in the United States at the time, and discoverer of the role of genes and the chromosome in heredity. In 1930, Kerckhoff Marine Laboratory was established in Corona del Mar under the care of Professor George MacGinitie. In 1926, a graduate school of aeronautics was created, which eventually attracted Theodore von Kármán. Kármán later helped create the Jet Propulsion Laboratory, and played an integral part in establishing Caltech as one of the world's centers for rocket science. In 1928, construction of the Palomar Observatory began.

Nucleic acid sequence

DNA sequencesnucleotide sequencegenetic information
In addition to studying chromosomes to the level of individual genes, genetic testing in a broader sense includes biochemical tests for the possible presence of genetic diseases, or mutant forms of genes associated with increased risk of developing genetic disorders. Genetic testing identifies changes in chromosomes, genes, or proteins. Usually, testing is used to find changes that are associated with inherited disorders. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person's chance of developing or passing on a genetic disorder. Several hundred genetic tests are currently in use, and more are being developed.


Heterochromatin consists mainly of genetically inactive and repetitive DNA sequences as well as containing a larger amount of Adenine-Thymine pairs. Euchromatin is usually under active transcription and stains much lighter as it has less affinity for the giemsa stain. Euchromatin regions contain larger amounts of Guanine-Cytosine pairs. The staining technique using giemsa staining is called G banding and therefore produces the typical "G-Bands". 1) between the sexes. 2) between the germ-line and soma (between gametes and the rest of the body). 3) between members of a population (chromosome polymorphism). 4) in geographic specialization, and. 5) in mosaics or otherwise abnormal individuals.

Alpha-1 antitrypsin deficiency

alpha 1-antitrypsin deficiencyalpha-1-antitrypsin deficiencyAlpha 1 antitrypsin deficiency
The diagnosis is suspected based on symptoms and confirmed by blood tests or genetic tests. Treatment of lung disease may include bronchodilators, inhaled steroids, and when infections occur antibiotics. Intravenous infusions of the A1AT protein or in severe disease lung transplantation may also be recommended. In those with severe liver disease liver transplantation may be an option. Avoiding smoking is recommended. Vaccination for influenza, pneumococcus, and hepatitis is also recommended. Life expectancy among those who smoke is 50 years old while among those who do not smoke it is almost normal. The condition affects about 1 in 2,500 people of European descent.

Horizontal gene transfer

lateral gene transferhorizontal transfergene transfer
"Sequence comparisons suggest recent horizontal transfer of many genes among diverse species including across the boundaries of phylogenetic 'domains'. Thus determining the phylogenetic history of a species can not be done conclusively by determining evolutionary trees for single genes." *Analysis of DNA sequences suggests that horizontal gene transfer has occurred within eukaryotes from the chloroplast and mitochondrial genomes to the nuclear genome. As stated in the endosymbiotic theory, chloroplasts and mitochondria probably originated as bacterial endosymbionts of a progenitor to the eukaryotic cell.


The sequence of bases along a particular DNA molecule specifies the genetic information: this is comparable to a sequence of letters spelling out a passage of text. Before a cell divides through mitosis, the DNA is copied, so that each of the resulting two cells will inherit the DNA sequence. A portion of a DNA molecule that specifies a single functional unit is called a gene; different genes have different sequences of bases. Within cells, the long strands of DNA form condensed structures called chromosomes. Organisms inherit genetic material from their parents in the form of homologous chromosomes, containing a unique combination of DNA sequences that code for genes.

Phenotypic trait

A gene is a portion of a chromosome, which is a very long and compacted string of DNA and proteins. An important reference point along a chromosome is the centromere; the distance from a gene to the centromere is referred to as the gene's locus or map location. The nucleus of a diploid cell contains two of each chromosome, with homologous (mostly identical) pairs of chromosomes having the same genes at the same loci. Different phenotypic traits are caused by different forms of genes, or alleles, which arise by mutation in a single individual and are passed on to successive generations. A gene is only a DNA code sequence; the slightly different variations of that sequence are called alleles.

Borrelia burgdorferi

B. burgdorferiB burgdorferiborrelia infection
B. burgdorferi (B31 strain) was the third microbial genome ever sequenced, following the sequencing of both Haemophilus influenzae and Mycoplasma genitalium in 1995. Its linear chromosome contains 910,725 base pairs and 853 genes. The sequencing method used was whole genome shotgun. The sequencing project, published in Nature in 1997 and Molecular Microbiology in 2000, was conducted at The Institute for Genomic Research. Overall, ''B. burgdorferi'''s genome oddly consists of one megabase chromosome and a variety of circular and linear plasmids ranging in size from 9 to 62 kilobases.


cowcowsBos taurus
The hybrid origin of some types may not be obvious – for example, genetic testing of the Dwarf Lulu breed, the only taurine-type cattle in Nepal, found them to be a mix of taurine cattle, zebu, and yak. However, cattle cannot be successfully hybridized with more distantly related bovines such as water buffalo or African buffalo. The aurochs originally ranged throughout Europe, North Africa, and much of Asia. In historical times, its range became restricted to Europe, and the last known individual died in Mazovia, Poland, in about 1627.


genotypedgenotypeGenome screen
Genotyping is the process of determining differences in the genetic make-up (genotype) of an individual by examining the individual's DNA sequence using biological assays and comparing it to another individual's sequence or a reference sequence. It reveals the alleles an individual has inherited from their parents. Traditionally genotyping is the use of DNA sequences to define biological populations by use of molecular tools. It does not usually involve defining the genes of an individual.

Cell-free fetal DNA

cell-free DNACell free fetal DNA cell-free fetal DNA (cffDNA)
;Sex chromosomes Analysis of maternal serum cffDNA by high-throughput sequencing can detect common fetal sex chromosome aneuploidies such as Turner's syndrome, Klinefelter's syndrome and triple X syndrome but the procedure's positive predictive value is low. ;Trisomy 21 Fetal trisomy of chromosome 21 is the cause of Down's syndrome. This trisomy can be detected by analysis of cffDNA from maternal blood by massively parallel shotgun sequencing (MPSS). Another technique is digital analysis of selected regions (DANSR). Such tests show a sensitivity of about 99% and a specificity of more than 99.9%.

Newborn screening

neonatal screeningscreening of newbornsNewborn Screening Program
The same has to be further done by higher technologies or procedure like GC/MS, Enzyme Assays or DNA Tests. This in effect adds more cost burden and makes physicians lose precious time. To avoid at least a portion of the up front costs, some states such as Mississippi have chosen to contract with private labs for expanded screening. Others have chosen to form Regional Partnerships sharing both costs and resources. But for many states, screening is an integrated part of the department of health which can not or will not be easily replaced. Thus the initial expenditures can be difficult for states with tight budgets to justify.


Radiocarbon dating suggested that the chickens were Pre-Columbian, and DNA analysis showed that they were related to prehistoric populations of chickens in Polynesia. These results appeared to confirm that the chickens came from Polynesia and that there were transpacific contacts between Polynesia and South America before Columbus's arrival in the Americas. However, a later report looking at the same specimens concluded: A published, apparently pre-Columbian, Chilean specimen and six pre-European Polynesian specimens also cluster with the same European/Indian subcontinental/Southeast Asian sequences, providing no support for a Polynesian introduction of chickens to South America.

Craig Venter

J. Craig VenterDr. Craig VenterJ. Craig Venter Ph.D.
On September 4, 2007, a team led by Sam Levy published one of the first genomes of an individual human—Venter's own DNA sequence. Some of the sequences in Venter's genome are associated with wet earwax, increased risk of antisocial behavior, Alzheimer's and cardiovascular diseases. This publication was especially interesting because it attempted to separate the two haplotypes (the two copies of each chromosome), although it only accomplished this in a limited way. The genome as published only had 3 billion bases, rather than the full 6 billion that would comprise a fully diploid sequence. Another 10 years passed before the first haplotype-resolved human genomes began to appear.

List of genetic disorders

childhooddisease-causing geneshereditary disorders
The following is a list of genetic disorders and if known, type of mutation and the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in these genes that causes the disease. * P – Point mutation, or any insertion/deletion entirely inside one gene. D – Deletion of a gene or genes. C – Whole chromosome extra, missing, or both (see chromosome abnormality). T – Trinucleotide repeat disorders: gene is extended in length.

10x Genomics

GemCode: In 2015, 10x Genomics released GemCode genomics platform, its DNA sequencing technology. The product, which includes an instrument, chemistry kit, and informatics software, partitions DNA samples into 'gems' through a custom microfluidic system. According to Bio-IT World "the DNA in each gem can then be fragmented into short-read libraries suitable for Illumina sequencing, with each fragment receiving a 14-base molecular barcode unique to its gem of origin." Chromium System: 10x Genomics range of Chromium System solutions is an upgraded DNA sequencing technology.

Ashkenazi Jews

AshkenaziAshkenazi JewishAshkenazic
Efforts to identify the origins of Ashkenazi Jews through DNA analysis began in the 1990s. Currently, there are three types of genetic origin testing, autosomal DNA (atDNA), mitochondrial DNA (mtDNA), and Y-chromosomal DNA (Y-DNA). Autosomal DNA is a mixture from an individual's entire ancestry, Y-DNA shows a male's lineage only along his strict paternal line, mtDNA shows any person's lineage only along the strict maternal line. Genome-wide association studies have also been employed to yield findings relevant to genetic origins. Like most DNA studies of human migration patterns, the earliest studies on Ashkenazi Jews focused on the Y-DNA and mtDNA segments of the human genome.

Bipolar disorder

bipolarmanic depressionmanic depressive
Behavioral genetic studies have suggested that many chromosomal regions and candidate genes are related to bipolar disorder susceptibility with each gene exerting a mild to moderate effect. The risk of bipolar disorder is nearly ten-fold higher in first degree-relatives of those affected with bipolar disorder when compared to the general population; similarly, the risk of major depressive disorder is three times higher in relatives of those with bipolar disorder when compared to the general population. Although the first genetic linkage finding for mania was in 1969, the linkage studies have been inconsistent.

List of genetic genealogy topics

X chromosome. Human migration. Population genetics. Multiregional hypothesis. Single-origin hypothesis. Human Genome Project. International HapMap Project. Molecular Genealogy Research Project. Surname DNA project. The Genographic Project. List of Y-chromosome databases. List of DNA tested mummies. List of DNA tested historical figures. List of genetic results derived from historical figures. Y-chromosome haplogroups in populations of the world.

Immortalised cell line

cell linecell linesimmortalized cell line
., the adenovirus type 5 E1 gene was used to immortalise the HEK 293 cell line; the Epstein-Barr virus can immortalise B lymphocytes by infection ). 3) Artificial expression of key proteins required for immortality, for example telomerase which prevents degradation of chromosome ends during DNA replication in eukaryotes. 4) Hybridoma technology, specifically used for the generation of immortalised antibody-producing B cell lines, where an antibody-producing B cell is fused with a myeloma (B cell cancer) cell. 3T3 cells – a mouse fibroblast cell line derived from a spontaneous mutation in cultured mouse embryo tissue. A549 cells – derived from a cancer patient lung tumor.


pharmacogeneticspharmacogenomicpoor metabolizer
Computational advances have enabled cheaper and faster sequencing. Research has focused on combinatorial chemistry, genomic mining, omic technologies and high throughput screening. As the cost per genetic test decreases, the development of personalized drug therapies will increase. Technology now allows for genetic analysis of hundreds of target genes involved in medication metabolism and response in less than 24 hours for under $1,000. This a huge step towards bringing pharmacogenetic technology into everyday medical decisions. Likewise, companies like deCODE genetics, MD Labs Pharmacogenetics, Navigenics and 23andMe offer genome scans.

Wolf–Hirschhorn syndrome

Wolf-Hirschhorn syndrome4p- syndromePitt–Rogers–Danks syndrome
Wolf–Hirschhorn syndrome is a microdeletion syndrome caused by a deletion within HSA band 4p16.3 of the short arm of chromosome 4, particularly in the region of and. About 87% of cases represent a de novo deletion, while about 13% are inherited from a parent with a chromosome translocation. In the cases of familial transmission, there is a 2 to 1 excess of maternal transmission. Of the de novo cases, 80% are paternally derived. Severity of symptoms and expressed phenotype differ based on the amount of genetic material deleted. The critical region for determining the phenotype is at 4p16.3 and can often be detected through genetic testing and fluorescence in situ hybridization (FISH).