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Genomewide Mapping Reveals Developmental And Environmental Impacts
and New Gene for Intellectual Disability Discovered, Study Finds
Laura María Pineda JiménezMedicine Student3rd Semester2011
FOLDING
FOLDING
INTRODUCTION
DNA is the molecule that contains genetic
information and permanently is exposed
to different factors causing several
damages known as mutations
The development of new techniques such as genetic maps, allow to
identify the components of the genome and
beyond that, determine the possible causes of
many diseases
GENOMEWIDE MAPPING REVEALS DEVELOPMENTAL AND ENVIRONMENTAL IMPACTS
SCIENCEDAILY (AUG. 22, 2011)
GENOMEWIDE MAPPING REVEALS DEVELOPMENTAL AND ENVIRONMENTAL
IMPACTS
• Small flowering plant with a short life cycle (6 weeks)
• Model organism in plant biology and genetics because it has a rather small genome (157 Mbp and 5 chromosomes)
• First plant genome to be sequenced and to assign functions to its 27,000 genes and the 35,000 proteins they encode
Arabidopsis thaliana:
Measurement and treatment of the plants:
• Plants contain the enzyme myrosinase, which, in the presence of water, cleaves off the glucose group from a glucosinolate. The remaining molecule converts to active substances that serve as defense for the plant
• Silver nitrate: used in organic synthesis, for deprotection and oxidations
GENOMEWIDE MAPPING REVEALS DEVELOPMENTAL AND ENVIRONMENTAL
IMPACTS
• Method of mapping quantitative trait loci
• It is used in the form of a genome-wide association study wich is performed by scanning an entire genome for SNPs associated with a particular trait, or with a particular disease
• Cancer, Alzheimer’s disease and obesity
GENOMEWIDE MAPPING REVEALS DEVELOPMENTAL AND ENVIRONMENTAL
IMPACTS
Association mapping:
Today the number of investigations aimed at the discovery of potential internal and external factors that may affect the genome has greatly increased at the same time that they develop new techniques and methods to facilitate their identification, and in this way to prevent diseases that continually affect human
OBSERVATION
NEW GENE FOR INTELLECTUAL DISABILITY DISCOVERED
SCIENCEDAILY (JULY 29, 2011)
Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase:
• Enzyme that in humans is encoded by the MAN1B1 gene
• This gene is involved in glycoprotein quality control targeting of misfolded glycoproteins for degradation
NEW GENE FOR INTELLECTUAL DISABILITY DISCOVERED
Recessive Inheritance cause intellectual disability:
• When the gene causing the condition is recessive, usually the number of people affected is much smaller
• An affected individual fruit of two families with no history (both parents are heterozygous for the mutation), because there is a normal dominant allele
NEW GENE FOR INTELLECTUAL DISABILITY DISCOVERED
Intellectual disability:
• Is a broad concept encompassing various intellectual deficits (mental retardation, learning disability, brain injuries or neurodegenerative diseases)
• It may appear at any age
• Mental retardation: Defined as an Intelligence Quotient score under 70, including a component relating to mental functioning and one relating to individuals' functional skills in their environment
NEW GENE FOR INTELLECTUAL DISABILITY DISCOVERED
This research is a joint achievement of different people around the world interested in the identification, diagnosis and treatment of many diseases, that today, its causes are unknown to humans. All these projects will always have the same purpose, which is to improve the quality of life for people around the world. What drives a man to develop every day new technologies that serve to facilitate the manipulation of the human genome
OBSERVATION
MEDICAL UTILITY
MEDICAL UTILITY
Using the technologies that have been developed day by day, is much easier for scientists, clinicians and researchers identify different diseases and it is also possible to quickly develop a diagnosis and treatment or even prevent them before their manifestation
Is not just function of a few people the study of the genome, but also is a function of students, teachers, doctors, scientists, researchers and many more people, and from everyone working together can get great contributions to science and human development
MEDICAL UTILITY
MEDICAL UTILITY
The use of technologies for the study of DNA, has as main objective to ensure the quality of life for all patients suffering from genetic diseases and to facilitate their daily performance
• Genomewide Mapping Reveals Developmental and Environmental Impacts. ScienceDaily (Aug. 22, 2011). Taken from: http://www.sciencedaily.com/releases/2011/08/110816152241.htm, on September 15th from 2011.
• New Gene for Intellectual Disability Discovered. ScienceDaily (July 29, 2011). Taken from: http://www.sciencedaily.com/releases/2011/07/110715135141.htm, on September 15th from 2011.
• M. S. Lina María, V. G. Natalia, T. M. Andrés Eduardo, P. S. Ana Paulina and Q. O. Esteban. Biología molecular. Libro de clase. 6a ed. Medellín - UPB. Facultad de Medicina, 2011. Pág. 134 - 136.
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