Although PacBio sequencing could generate much longer reads than SGS, the throughput is its weakness. There are 150,000 ZMWs on a single SMRT RSII cell, each of which could produce one polymerase read or CCS read. Typically, only 35,000~70,000 of 150,000 ZMWs on one cell could successfully produce reads due to either the failure to anchor a polymerase or loading more than one polymerase in a ZMW. Therefore, the typical throughput of the PacBio RS II system is about 0.5-1 billion bases (0.5-1 G)…
Down syndrome is a mutation that occurs when an individual has a partial or full extra copy of chromosome 21. The additional chromosome changes the course of development and causes the well known characteristic changes associated with down syndrome. A few of the common physical traits of down syndrome are small stature, low muscle tone, and an upward slant to the eyes. However, each person affected with down syndrome is unique and may possess these characteristics to different levels. Down…
1. Why is the cell theory significant (don’t just state the tenets, explain what it means and why it is a theory)? The cell theory is significant because of it’s three basic ideals or principles. The first is that all organisms are made from cells. This means that cells are the building blocks of life and technically, all of life is connected and related to each other by this tenet. In addition, by researching and examine one type of cell, the results can be assumed for all similar types of…
do not have a nucleus, so it can not go through mitosis. In a means to reproduce, they procreate using binary fission. During the process multiple fission, the replication of the archaeal DNA occurs and the two strands are pulled apart. Archaeal chromosomes replicate using DNA polymerases that mirror complements eukaryotic enzymes. Protein FtsZ, the protein that directs cell division, forms a contracting ring around the cell. The factors of the septum build up across the center of the cell,…
Trisomy 21 is a condition where each and every cell in the human body contains three copies of chromosome 21 as opposed the medically normal state of only two copies. Chromosome 21 is the most minute of the 23 chromosome pairs and carries directions on how the body makes proteins. Although this chromosome is relatively small, the drawbacks of having a third copy can have a blighting effect on those afflicted. The condition of having trisomy 21 has been named after Dr. Langdon Down who is…
This lab represents the relation between the amount of cells in each phase of mitosis can help conclude how much time is spent in every stage. As shown in the blue table on the right, the amount of cells vary significantly. In order to determine the amount of time each cell spends in a certain stage, the number of cells found in that stage must be divided by the number of cells in total. Then, that number must be multiplied by 720 minutes. Based on the data that was collected and the information…
Phenylketonuria is a rare genetic disorder caused by an inborn error in aromatic amino-acid metabolism resulting a lack of mental abilities and developmental changes. Phenylketonuria is an autosomal-recessive inherited metabolic disease in which excessive accumulation of phenylalanine occurs which further leads to neurological impairment. In this paper we report a case of a one-year-old child born with the consanguineous parent with distinct amino acid analysis and radiological findings.…
In the study of evolution one time in history that is very closely looked at is exactly when humans arose in the world. There are certain characteristics that have to be met in order for something to be considered “human.” The question is when where all of those characteristics met? In these evolutionary studies the Neanderthals and the Denisovans come into conversation. Scientist ask if these organisms could be considered “human?” They try to answer this by studying how they lived, when they…
One mutation in a single human chromosome is all it takes. When a human has an extra copy of chromosome 21, this is referred to a developmental disorder known as Down’s Syndrome or Trisomy 21. An individual with Down’s have three copies of their genes instead of two, therefore disturbing the control of protein production within cells. It is so common and widespread that 1 out of every 800 to 1,000 babies are affected by Down’s Syndrome (FamilyDoctor). This means, according to the article…
disadvantage of using the FISH technique is that only 10 to 12 chromosomes can be analyzed at a time, while a human cell contains 46 chromosomes. This lessens the chances of transferring a healthy embryo to the mother’s womb, because some mutated chromosomes might not have been discovered (“PGD/PDS”). However, this technique would be useful for Huntington’s disease because the CAG repeats that cause the disease are only located on chromosome 4 (HD). Along with preventing inherited diseases…