lunes, 28 de febrero de 2011

genetic disorder DOAJ.ORG

Genetics of asthma: a molecular biologist perspective
Author: Kumar Amrendra ; Ghosh Balaram
Abstract:

Abstract

Asthma belongs to the category of classical allergic diseases which generally arise due to IgE mediated hypersensitivity to environmental triggers. Since its prevalence is very high in developed or urbanized societies it is also referred to as "disease of civilizations". Due to its increased prevalence among related individuals, it was understood quite long back that it is a genetic disorder. Well designed epidemiological studies reinforced these views. The advent of modern biological technology saw further refinements in our understanding of genetics of asthma and led to the realization that asthma is not a disorder with simple Mendelian mode of inheritance but a multifactorial disorder of the airways brought about by complex interaction between genetic and environmental factors. Current asthma research has witnessed evidences that are compelling researchers to redefine asthma altogether. Although no consensus exists among workers regarding its definition, it seems obvious that several pathologies, all affecting the airways, have been clubbed into one common category called asthma. Needless to say, genetic studies have led from the front in bringing about these transformations. Genomics, molecular biology, immunology and other interrelated disciplines have unearthed data that has changed the way we think about asthma now. In this review, we center our discussions on genetic basis of asthma; the molecular mechanisms involved in its pathogenesis. Taking cue from the existing data we would briefly ponder over the future directions that should improve our understanding of asthma pathogenesis.
BIBLIOGRAFY
Journal: Clinical and Molecular Allergy
Issn: 14767961
EIssn:
Year: 2009
Volume: 7
Issue: 1
pages/rec.No: 7
Key words
http://www.doaj.org/doaj?func=openurl&genre=journal&issn=14767961&volume=7&issue=1&date=2009

domingo, 27 de febrero de 2011

Who is Genetic Disorders ?

A genetic disorder is a condition caused by abnormalities in genes or chromosomes. While some diseases, such as cancer, are due to genetic abnormalities acquired in a few cells during life, the term "genetic disease" most commonly refers to diseases present in all cells of the body and present since conception. Some genetic disorders are caused by chromosomal abnormalities due to errors in meiosis, the process such as the reproductive cells which produce sperm and eggs. Examples include Down syndrome (extra chromosome 21), Turner Syndrome (45X0) and Klinefelter syndrome (a male with 2 X chromosomes). Other genetic changes may occur during the production of germ cells from the father. One example is the mutation of repeat expansion of the trio that can cause fragile X syndrome or Huntington's disease. The defective gene can also be inherited intact from the parents. This can often happen unexpectedly when two healthy carriers of a defective recessive gene reproduce, but can also happen when the defective gene is dominant. About 4,000 genetic disorders are currently known, with more being discovered. Most disorders are quite rare and affect one person in every several thousands or millions. Cystic fibrosis is one of the most common genetic disorders, around 5% of the population of the United States carry at least one copy of the defective gene. Some types of recessive gene disorder confer an advantage in heterozygous state in certain environments.

Genetic Disorders

Here we see the different types of genetic disorders and how they affect us

Retrieved from: http://www.youtube.com/watch?v=eHQiwX5SSgM

Genetic Disorders Video Turner’s Disease

Affects 1 in every 25,000 birth. It only affects baby girls. It is a genetic condition. It can be detected while the mother is pregnant with an amniocentesis. There is no way to prevent it. Turner’s disease is caused by an abnormal X chromosome or a missing X chromosome, where there should be two X chromosomes, which are the sex chromosomes. It causes abnormality in the shape of the chest abnormality with the palate verbal learning disorder and premature loose of ovarian function. Also causes short stature and infertility. An option if detected by amniocenteses termination, but for the fathers.

Parents (2010) Retrieved from: http://www.youtube.com/watch?v=YQyOgcGxn70

GAO investigates genetic test companies

The Government accountability office (GAO) is examining companies that sell directly to consumers genetic tests. The investigation is centralized in important companies in the growing market of consumer genetic tests. This companies are 23 and Me, Navigenics, De Code Genetics and Pathway Genomics. During a hearing at the House Energy and Commerce Committees Investigation Gregory Kuts, managing director of forensic audits and special investigations described the GAO’s method. The results varied because each company uses different methods for analyzing the data. The director of the Food and Drug Administration (FDA) Center for Devices and Radiological Health Jeff Shuren, also testified at the hearing. Although genetic test has been sold online for years it was the intent of Walgreen’s to sell on their pharmacies the Path way company genetic test. The FDA is still determining the next steps in regulating the young direct to consumer genetic test market.


GAO investigates genetic test companies." Issues in Science and Technology 27.1 (2010): 27. Gale Opposing Viewpoints In Context. Web. 28 Feb. 2011.
Retrieved from http://ic.galegroup.com/ic/ovic/AcademicJournalsDetailsPage/AcademicJournalsDetailsWindow?displayGroupName=Journals&prodId=OVIC&action=e&windowstate=normal&catId=&documentId=GALE|A240623016&mode=view