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1(4分)
The Nobel Prize in Physiology or Medicine 1999 was awarded to Günter Blobel "for the discovery that proteins have intrinsic signals that govern their transport and localization in the cell". The Nobel Prize in Chemistry 1993 was awarded "for contributions to the developments of methods within DNA-based chemistry"jointly with one half to Kary B. Mullis "for his invention of the polymerase chain reaction (PCR) method" and with one half to Michael Smith "for his fundamental contributions to the establishment of oligonucleotide-based, site-directed mutagenesis and its development for protein studies".
2(6分)
‘Every Hour Hurts, The Last One Kills'. That is an old saying about getting old. Every day, thousands of DNA damaging events take place in each cell of our body, but efficient DNA repair systems have evolved to prevent that. However, our DNA repair system and that of most other organisms are not as perfect as that of Deinococcus radiodurans, for example, which is able to repair massive amounts of DNA damage at one time. In many instances, accumulation of DNA damage has been linked to cancer, and genetic deficiencies in specific DNA repair genes are associated with tumor-prone phenotypes. In addition to mutations, which can be either inherited or somatically acquired, epigenetic silencing of DNA repair genes may promote tumorigenesis.
3(5分)
This issue marks the 50th anniversary of the release of the U.S. Surgeon General's Report on Smoking and Health. Perhaps no other singular event has done more to highlight the effects of smoking on the development of cancer. Tobacco exposure is the leading cause of cancers involving the oral cavity, conductive airways, and the lung. Owing to the many carcinogens in tobacco smoke, smoking-related malignancies have a high genome-wide burden of mutations, including in the gene encoding for p53. The p53 protein is the most frequently mutated tumor suppressor in cancer, responsible for a range of critical cellular functions that are compromised by the presence of a mutation.
4(10分)
Sickle cell disease (SCD), the most common genetic disease screened for in the newborn period, occurs in ∼1 in 2400 newborns in the general population and 1 in 400 individuals of African descent in the United States. Despite the relative high prevalence and low pediatric mortality rate of SCD when compared with other genetic diseases or chronic diseases in pediatrics, few evidence-based guidelines have been developed to facilitate the transition from pediatrics to an internal medicine or family practice environment. As with any pediatric transition program, common educational, social, and health systems themes exist to prepare for the next phase of health care; however, unique features characterizing the experience of adolescents with SCD must also be addressed. These challenges include, but are not limited to, a higher proportion of SCD adolescents receiving public health insurance when compared with any other pediatric genetic or chronic diseases; the high proportion of overt strokes or silent cerebral infarcts (∼30%) affecting cognition; risk of low high school graduation; and a high rate of comorbid disease, including asthma. Young adults with SCD are living longer; consequently, the importance of transitioning from a pediatric primary care provider to adult primary care physician has become a critical step in the health care management plan. We identify how the primary care physicians in tandem with the pediatric specialist can enhance transition interventions for children and adolescents with SCD.
5(15分)
The Human Genome Project (HGP) is a global scientific research program created to understand the hereditary instructions that make each of us unique. The HGP will create a vast resource of detailed scientific information about the structure, organization and function of human DNA. Scientists at the U.S. Department of Energy (DOE) were the first to envision the project, in 1986, as a project to explore newly developing DNA analysis technologies. By 1988, the National Institutes of Health (NIH) joined the project and a joint effort was formally announced in 1990, officially starting the Human Genome Project. The Department of Energy'sHuman Genome Program and the National Institutes of Health's National Human Genome Research Institute (NHGRI) together coordinate the HGP. TheHGP's original plan was a three billion dollar 15-year project that would be completed in 2005. However, through rapid technological advances, worldwide efforts on the project have greatly accelerated changing the expected completion date to 2003 (making the project a 13-year endeavor).Over one thousand researchers, including 16 institutions across six nations (the United States, Great Britain, France, Germany, Japan and China) are involved with the HGP. The demands are great for a successful completion of the ambitious HGP goals. This effort includes working to develop a range of new and innovative technologies, including the establishment of a way to quickly and efficiently distribute the information to all scientists, physicians, and others worldwide so that the results may be rapidly used for the public good. In fact, this will lead to improved technology for biomedical research as an important byproduct of the HGP. From the beginning, it has been clearly recognized that acquiring and using genetic knowledge from the HGP will have significant implications for individuals and for society. The HGP is the first large scientific undertaking to address the ethical, legal, and social issues that may arise fromthe project. The US government also has a commitment to share the technology with the private sector. By licensing technologies to private companies and awarding grants for innovative research, the project is motivating the biotechnology industry and promoting the development of new medical applications.
6(5分)
Gene therapy is the use of DNA as a drug to treat disease by delivering therapeutic DNA into a patient's cells. The most common form of gene therapy involves using DNA that encodes a functional, therapeutic gene to replace amutated gene. Other forms involve directly correcting a mutation, or using DNA that encodes a therapeutic protein drug (rather than a natural human gene) to provide treatment. In gene therapy, DNA that encodes a therapeutic protein is packaged within a "vector", which is used to get the DNA inside cells within the body. Once inside, the DNA becomes expressed by the cell machinery, resulting in the production of therapeutic protein, which in turn treats the patient's disease.
7(5分)
The polymerase chain reaction (PCR) is a biochemical technology in molecular biology to amplify a single or a few copies of a piece of DNA across several orders of magnitude, generating thousands to millions of copies of a particular DNA sequence.
Developed in 1983 by Kary Mullis, PCR is now a common and often indispensable technique used in medical and biological research labs for a variety of applications. These include DNA cloning for sequencing, DNA-basedphylogeny, or functional analysis of genes; the diagnosis of hereditary diseases; the identification of genetic fingerprints (used in forensic sciences and paternity testing); and the detection and diagnosis of infectious diseases. In 1993, Mullis was awarded the Nobel Prize in Chemistry along with Michael Smith for his work on PCR.
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