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The Fragile X Syndrome And Duchenne Muscular Dystrophy (Dmd) Disease Comparation

3571 words - 14 pages

The human genome is split into 23 pair's chromosomes (DNA), which are coiled in a spiral ladder type through nucleotide hydrogen bases (cytosine-c, guanine-g, thymine-t, adenine-a) (fig1 below). Human cells have 46 chromosomes (fig 2 below) - 22 pairs of autosomes chromosomes 1 to 22 and two sex chromosomes X and y or X and X depending gender (sex-linked). Within these chromosomes are roughly 30,000 genes that controls and construct the organs in the body.There are over approximately 250 recognized sex-linked diseases, affecting every organ system. Of these, 95% affect males as it reflects the presence of the abnormal gene on the X chromosome, which is present in two copies in females and one in males. Males inherit the X chromosome from their mother and the Y chromosome from their father. Since this is the case, abnormalities on the X chromosome from the mother will usually manifest as a disease within 50% of her males offspring's. Since females have a chromosomal make-up of XX, inheriting an X chromosome with disease mutations in it generally will not produce the disease condition. The healthy X chromosome that the female has inherited from her other parent male masks the diseased X chromosome. The female with one mutated X chromosome would be known as a carrier because she can pass the mutation onto her children, though she may not be directly affected by it. An X-linked disease could affect a female, in a lower percentage, if her mother is a carrier and the disease affects her father. If her mother and her father are both affected with the disease, she will most certainly be afflicted with the disease as well.Despite these many sex-linked diseases, at present prenatal diagnosis can specifically be made in fewer than 40 diseases. These sex-linked diseases of single gene disorder are individual rare and some are named after physicians who described them, for example, Duchenne muscular dystrophy and fragile-X syndrome (Martin-Bell Syndrome) which this paper relates.Fig 1 - DNA showing nucleotides basesFig 2- a) Normal male (46, X Y left) and b) female (46,Xx right) karyotype.·Fragile X SyndromeThe fragile X syndrome is an inhereted disorder, has a incidence of 1 per 4000 males and 1 per 7000 females (Ramos, F. J. et all 2003). It generally characterized by the phenotype mental retardation, macroorchidism (enlarged testicles), large ears, prominent jaw, hyperactivity , perseverative speech, hyper extensible of joints which was described for the first time in 1943 by Martin & Bell (Escalate, J. A. Et all 1971) and foloweed in 1969 by chromossomic tests for its diagnosis but it was incomplete reliability. Only in the earllys 1990's, this study made place with availabitilty of molecular biology tests such polimerase chain reaction and southern blot analysis wich was very useful to uderstading it.Fig 2 -The X chromosome the mapping site of the disorder occurrencesIn 1991, Fu YH & et all revealed that the grounds of Fragile X syndrome...

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