Haemochromatosis Detection Essay -- essays research papers

HAEMOCHROMATOSIS DETECTION USING PCR-RFLP displayHereditary Haemochromatosis (HH), first described in 1865, is a genetic bother of metabolism, characterized by progressive push overload resulting from abnormalities in intestinal iron absorption and or release of iron from reticuloendothelial cells . It is an autosomal recessive disorder, where the proboscis accumulates redundantive iron, which is deposited in a variety of organs. Iron can non be excreted, thus, the excess builds to toxic levels in tissues of major organs such as the liver, heart, pituitary, thyroid, pancreas, lungs, and synovium (joints). These organs cease to function adequately and eventually become diseased. proficient illnesses such as diabetes, cirrhosis, hepatoma, hypogonadotrophic hypogonadism, cardiomyopathy and arthritis may be a backwash of this disease . It affects 1 in every three hundred Caucasians, and unrivaled in nine is a carrier , hence, making its early get holdive work vital. The gene re sponsible for HH (HLA-H) was recently identified on the short artillery of chromosome 6 and is thought to be mainly caused by a transformation of a gene called HFE, which allows excess iron to be absorbed from the diet . This mutation is known as C282Y. A single point mutation occurs, in which the amino acid cysteine at position 282 changes to a tyrosine . To break down haemochromatosis two genes, one from each parent, are required to be C282Y. However, not everyone with the mutation may develop the disease and it may occur if precisely one C282Y gene is present (4). 77.5% of affected individuals have two copies of the C282Y mutation, one inherited from each parent, while about 4% have a single copy of the mutation and one normal HFE gene . eldest proposed in early 1970s, Polymerase Chain Reaction (PCR) has been identified as a simple, robust, speedy, and most of all, flexible method that can be used to detect haemochromatosis . In this technique, specific DNA sequences are am plified for the maculation of mutations that may be present, allowing early diagnosis of hereditary heamochromatosis (see figure 1). It is a major schooling in the analysis of DNA and RNA. The requirements of the reaction are simple, consisting of deoxynucleotides to provide both the energy and nucleosides for the synthesis of DNA, template, primer, DNA polymerase, and buffer containing magnesium . The crux of the PCR operation involves three s... ...Med J Aust. 2001 Oct 15175(8)418-21(PubMed) http//www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11700835&dopt=Abstract11 DNA test for Hereditary Hemochromatosis Molecular Genetic Testing in Mainstream Medicine (Vol. 14 Spring, 1997) http//www.mostgene.org/gd/gdvol14c.htm12 http//www.aiddiagnostika.com/english/kits/GenID/rdb_2045e_haemochromatosis.htm13 http//www.mja.com.au/public/issues/179_10_171103/ger10460_fm-2.html14 Marion K. Stott, Andrew P. Fellowes, Jeff D. Upton, Michael J. Burt and Peter M. Georg ea Simple Multiplex PCR for the Simultaneous detective work of the C282Y and H63D Hemochromatosis (HFE) Gene Mutations http//www.clinchem.org/cgi/content/full/45/3/42615 http//bip.weizmann.ac.il/mb/bioguide/pcr/PCRwhat.html16 http//allserv.rug.ac.be/avierstr/principles/pcr.html17 Alka Dwivedi, B.C. Sarin, Dev Mittar, P.K. Sehajpal (2003) Optimization of 38kDA based PCR assay for detection of mycobacterium tuberculosis from clinical samples18 McPherson, M.J.(Author). PCR. - Oxford, , GBR BIOS Scientific Publishers Ltd, 2000. p 70.http//site.ebrary.com/lib/utslibrary/ physician?id=5000324&page=82