11+ nursing health assessment mnemonics & tips to help you through your nursing assessment and physical examinations and data gathering.
Genetic Worksheet Middle School Genetic Best Free from genetics worksheet middle school , image source: www.littlesalebirdy.com
Genetic variants can increase your risk of HPA axis dysfunction, how your body responds to cortisol. Check your 23andMe, Ancestry.com data for risk.
WHILE I’M ON THE SUBJECT of charm bracelets on another post, let’s take a little detour and have a look at what you’ve got in your veins. * * * Interestingly, when it comes to cha…
Learn about nursing diagnosis for lymphoma and nursing care plans in this comprehensive guide. Discover the most effective nursing management strategies to care for patients with lymphoma and improve their quality of life.
Knowing which of the forms of CMT you have is important so that you can understand the implications for passing the disease on to your children.
Turner Syndrome is a complex genetic condition that affects females and involves the partial or complete absence of one X chromosome. It is caused by the absence of one set of genes from the short arm of one X chromosome.
Cells are the fundamental units of life. How do we define a cell and how do they work? Understanding cells are the key to answering questions such as these
Use this exciting infographic as a teaching aid for your classes as your students discover the ABO/Rh blood groups.
POLYMERASE CHAIN REACTION (PCR) The polymerase chain reaction (PCR) provides a simple and ingeneous method for exponentially amplification of specific DNA sequences by in vitro DNA synthesis. This technique was developed by Katy Mullis at Cetus Corporation in Emery Ville, California in 1985. Katy Mullis shared the Nobel prize for chemistry in 1993. This technique has made it possible to synthesize large quantities of a DNA fragment without its cloning. It is ideally suited where the quantity of biological specimen available is very low such as a single fragment of hair or a tiny blood stain left at the site of a crime. The details of PCR techniques and its mechanism are described by Erlich (1989) in his edited book 'PCR Technology'. The PCR technique has now been automated and is carried out by a specially designed machine. Mechanism of PCR STEP 1: Denaturation (Melting of Target DNA) The polymerase chain reaction is a method for making many copies of a specific segment of DNA, starting with small amount. The DNA to be amplified is mixed with deoxyribonucleotides, Taq polymerase (a thermal stable DNA polymerase enzyme) and DNA primers (the DNA primers hydrizide to the end of the gene to be amplified & provide a starting point of Taq polymerase) STEP 2: Primer Annealing The mixture is heated to break down the hydrogen bond in the DNA Forming single-stranded molecules. The mixture cooled to allow the DNA primer to anneal to each end of the segment to be copied. The Taq polymerase then synthesized the complementary stands of DNA, using the primer as starting point. STEP 3: Primer Extension (Polymerization) The temp. raised again to separate the Dna stands and then lower the temperature to allow the primers to attached. Taq polymerase now synthesis another set of new complementary stands. This process is repeated until enough DNA has been produced to be identified or used for further research. After 21 cycles, one molecule of DNA can be amplified to over a one million copies. This amount of amplification can be achived by running the reaction in overnight a thermal cycler, and the instrument that automatically raised and lower the temp. appropriate time interval. Fig: POLYMERASE CHAIN REACTION (PCR) Application of PCR After the discovery of PCR, the modern biology has been revolutionized in each and every aspect. Some of the areas of application of PCR have briefly been discussed herewith. 01. Diagnosis of Pathogens: There are several pathogens that grow slowly. Therefore, their cells are found less in number in the infected cells/tissues. It is difficult to culture them on artificial medium. Hence, for their diagnosis, PCR-based assays have been developed. These detect the presence of certain specific sequences of the pathogens present in the infected cells/tissues. Besides, it is useful in detection of viral infection before they cause symptoms or serious diseases. 02. Diagnosis of Specific Mutation: In humans there are thousands of genetic diseases. Mutations are also related to genetic diseases. Presence of a faulty DNA sequence can be detected before establishment of disease. By using PCR sickle cell anaemia, phenylketonuria and muscular distrophy can also be detected. The other diseases can also be diagnosed by using PCR. For example PCRbased diagnostic tests for AIDS, Chlamydia, tuberculosis, hepatitis, human pappiloma virus, and other infectious agents and diseases are being developed. The tests are rapid, sensitive and specific. 03. In Prenatal Diagnosis: It is useful in prenatal diagnosis of several genetic diseases. If the genetic diseases are not curable, it is recommended to go for abortion. 04. DNA Fingerprinting: In recent years DNA fingerprinting is more successfully used in forensic science to search out criminals, rapists, solving disputed parentage and uniting the lost parentage uniting children to their parents or relatives by confirming their identity. This is done through making link between the DNA recovered from samples of blood, semen, hairs, etc. at the spot of crime and the DNA of suspected individuals or between child and his/her parents/relatives. 05. In Research: In addition, DNA fingerprinting of new microorganisms isolated from various extreme environment (soil, water, sediments, air, extreme habitats, etc.) is also carried out to confirm their identity by comparing with the DNA sequences of known microorganisms. Their DNA and RNA can be amplified. Besides, it is also useful to determine the orientation and location or restriction fragments relative to one another. 06. In Molecular Archaeology (Palaentology): PCR has been used to clone the DNA fragments from the mummified remains of humans and extinct animals such as the woolly mammoth and dinosaurs from the remains of ancient animals as recently epitomized in Michel Crighton's Jurassic Park. DNA from buried humans has been amplified and used to trace the human migration that occurred in ancient time. 07. Diagnosis of Plant Pathogens: It is also applied in diagnosis of plant diseases. A large number of plant pathogens in various hosts or environmental samples are detected by using PCR, for example, viroids (associated with hops, apple, pear, grape, citrus, etc), viruses (such as TMV, cauliflower mosaic virus, bean yellow mosaic-virus, plum pox virus, potyviruses), mycoplasmas bacteria (Agrobacterium tumifticiens, P,Yeudotiioticis,vol(in(iceartini, Rhizobium legunfinosaritin, Xanthol"onas compestris, etc), fungi (e.g., collectotrichum gloeosporioides, Glomus spp., Laccaria spp., Phvtophthora spp., Verticillium spp), and nematodes (e.g. Meloido,,,,vne incoginta, M. javanica, etc) (Henson and French, 1993; Chawla, 1998).
Cells of our immune system simplified :)
Hemophilia results from mutations at the factor VIII or IX loci on the X chromosome and each occurs in mild, moderate, and severe forms.
If you’ve been giving yourself headaches by trying to understand diagrams like this, I think I can help you. I spent years thinking I would never understand all this methylation stuff. I read…
Most people today have heard of Crohn's disease but do not fully understand it. Here are three things you should know about the painful disease—from someone who has lived with Crohn's for over 20 years.
Having SNP In the MTHFR gene or the methylation pathway can contribute to SIBO. But what is the connection between MTHFR and SIBO?
Glycogen storage diseases are the result of deficiency of enzymes that cause the alteration of glycogen metabolism. The liver forms (type I, III, IV and VI) are marked by hepatomegaly due to increased liver glycogen and hypoglycemia caused by inability to convert glycogen to glucose. The muscle forms (type II, IIIA, V and VII) have mild symptoms appearing during sternous exercise owing to inability to provide energy for muscle contraction. Type 0 (Glycogen synthase deficiency) There is hypoglycemia; hyperketonemia and early death. Type I (Glucose-6-phosphatase deficiency)-Von Gierke’s disease This is the most common autosomal recessive disease. This disease is characterized by severe hypoglycemia that coincides with metabolic acidosis, ketonemia and elevated lactate (due to excess glycolysis) and alanine. Hypoglycemia occurs because glycogen cannot be converted back to glucose. A glycogen build up is found in liver causing hepatomegaly. The patients have severe hypoglycemia, hyperlipidemia (increased lipolysis caused by decreased glucose), uricemia (caused by competitive inhibition by lactate of renal tubular urate secretion and increased uric acid production) and growth retardation. Glucagon and epinephrine cannot produce hyperglycemia but result in increased lactate concentration and lipolysis. A variant of the disease type IB has been identified as a defect in endoplasmic reticulum glucose-6-phosphatase transport system. Other forms include a defect in microsomal phosphate or pyrophosphate transport (type IC) and defect in microsomal glucose transport (type ID). Type II (Lysosomal α1->4 and α1->6 Glucosidase deficiency)- Pompes disease It affects predominantly the heart and skeletal muscle, producing muscle weakness and cardiomegaly. Liver function is normal and patients do not have hypoglycemia. Two forms identified; (1) infantile (pompes disease) that develop in first few months of life with weakness and respiratory difficulties and (2) juvenile that is present in second or third decade of life with difficulty in walking. Type III (Amylo-1,6-Glucosidase deficiency)-Forbe’s or Cori’s disease Deficiency of glycogen debranching enzyme results in storage of an abnormal form of glycogen (limit dextrinosis). Both liver and muscle are affected (type IIIA), producing hepatomegaly and muscle weakness. About 15% have only liver involvement (Type IIIB). Differentiation from type I is by hyperglycemic response to galactose, low concentration of urate and lactate in blood, and elevated serum transaminases and creatinine kinase activities. Type IV (Branching Enzyme deficiency)-Andersons disease of Amylopectinosis It is extremely rare disorder manifested by production of an abnormal form of unbranched glycogen in all tissue. Patients exhibit hepatospleenomegaly with ascites and liver failure. There is death from heart or liver failure before 5 years of age. Type V (Muscle Phosphorylase deficiency)-McArdle’s disease It is also called McArdle’s disease usually present in second or third decade with muscle cramps after exercise. Increased plasma creatine kinase activity at rest, failure of ischemic exercise to increase serum lactate concentrations while producing an exaggerated increase in ammonia, moglobinuria and diminished activity of muscle phosphorylase establish the diagnosis. Type VI (Liver phosphorylase deficiency)- Hers’ disease It manifest as hepatomegaly caused by increased deposits of normal glycogen in liver or in red or white blood cells. Type VII (Muscle and erythrocyte phosphofructokinase deficiency)-Taruis’ disease Patients have abnormal glycogen in muscle. Exercise intolerance, unresponsiveness to glucose administration, and hemolysis (caused by decreased glycolysis in RBC) are noted clinically, producing hyperbilirubinemia, pigmenturia and reticulocytosis. Type VIII (Liver phosphorylase kinase deficiency) Type IX (Liver and muscle phosphorylase kinase deficiency) Type X (cAMP dependent protein kinase A deficiency) There is hepatomegaly and glycogen accumulation in liver
