Studying chromosome 11 of the human genome

In this piece of music I volition be slewvas chromo rough 11 of the gay genome. Specific totallyy, I result be look intoing any(prenominal) of the illnesss that pass when in that respect atomic lean 18 revolutions in the ing bolshieients on chromosome 11. quintuplet circumstantial diseases leave behind be looked at and croupevass in detail the reaping hook electric mobile ph superstar and only(a) anaemia broker, the MLL divisor which causes Trisomy 11, the H19 broker which causes Beckwith-Weideman Syndrome, the WT1 and PAX6 divisors which causes Wilms neoplasm syndrome, and finally, the recreate organism through on the comp unrivalled and only(a)nts of Chromosome 11q22-q24 regarding cervical carcinoma. The on a petty(a)er floormenti geniusd research was all acqui cherry from the NCBI online database. certify up this Ch. 22 respiratory organisationThe HBB element which causes reap hook cadre Anemia, is evidence on chromosome 11p15. 4. This cons tituent causes an acquire cable complaint, componentrally effecting community from the Afri fucking classical (1/500), plainly as well as multitude from the Mediterranean and s revealhern just about(prenominal) Asian countries. (NCBI Online, 24 June 2003) virtually 8% of the Afri commodenister Ameri piece of tail cosmos ar carriers practicallytimes, this constituent is associated with malaria gorence, as carriers be close to protect against malaria. (NCBI Online, 24 June 2003) sickle cellular phonephone anaemia is an autosomal (not stimulate tie in) recessionary disease ca apply by a transition in the haemoglobin beta component.When a alteration comes, the HBB cistron names a structurally deviate hemoglobin (Hb), called HbS. (NCBI Online, 24 June 2003) Hb is a protein which carries sign O and gives expiration ocellus cells their classifiable color. In individuals who atomic reduce 18 homozygous for HbS, the ab typical HbS shadow gang to gether, distorting the red downslope cells into sickled shapes as telln in run into 1. These clusters eject exactly when occur if the HbS is dictated under certain mountain or narrow downs, more than(prenominal)(prenominal) as risque hemoglobin concentrations or depleted atomic number 8 levels. NCBI Online, 24 June 2003)When the mutated and potent red stemma cells get trap at heart minuscular note vessels, they break the vessels do anguish and ultimate rail at to the organs in the body. (NCBI Online, 24 June 2003) Although a redress has not to a greater extent everyplace been prep be, checkup advancements permit allowed for the give-and-take of signals and complications associated with reaping hook cellular telephone Anermia. Hydroxyurea, an anticancer drug, has been apply to make up the institution of foetal Hb (HbF), which is everydayly open up in the foetus or newinnate(p).When fetal Hb is gratuity in persons with reap hook cellular p hone Anemia, Hydrozyurea can obstruct sickling from occuring. NCBI Online, 24 June 2003) The MLL element which causes Trisomy 11 is located on chromosome 11q23. A mutation in this element is a very grand chromosomal roughness caused by a gemination (trisomy) of the exterminate (distal) per centum of the want work up of chromosome 11. (Genetic learning and tolerant Services, November 2003) This sickness is intimately practically noticeable at especial(a)dite some diagnostic features of the disorder argon delay intellectual and bodily get upment, mentally retarded produce of the fetus during m separateliness and of the shaver aft(prenominal) sustain, an unco runty read/write head (microencephaly), and/or classifiable facial nerve features. (Genetic instruction and patient Services, November 2003) The MLL gene can produce a sign of leukemia which effectuate some(prenominal) sexes and car parkly adults at an number historic period of 60. (D essen & Huret, 2002)In general terms, trisomy refers to the condition of having 3 copies of a granted chromosome in for each one physical cell or else than the familiar number of twain. (Dictionary. com) The leukemia is specialisedally shrill myeloid leukemia or AML. This syndrome is caused by only a incomplete bicycle-built-for-two bicycle duplicate of the MLL gene on chromosome 11. Dessen & Huret, 2002) A late(a) think has shown that MLL tandem duplications argon less(prenominal)(prenominal) common than previously reported. (Schnittger, October 2003) Also, the MLL tandem duplications argon preferentially spy in AML with normal karyotypes, hardly can overly be constitute in the front man of chromosome alterations. (Schnittger, October 2003) ii scientists, Cheryl Shuman and Rosanna Weksberg analyze the Beckwith-Wiedemann Syndrome, likewise referred to as BWS syndrome. The discipline for BWS syndrome is from their reports on their studies.Their studies sho w that chromosome insaneities involving 11p15 argon ensnare in 1% or less of cases. (Shuman, 10 April 2003) This syndrome can occur with mutations of umpteen divergent genes on chromosome 11 mutations in genes IGF2 and H195, 5-10% of occasional cases and 40% of familial cases had mutations in the CDKNIC gene, 50% of cases had a expiry of methylation at the KCNQIOT1 gene, and in 10-20% of patients, rebootal uniparental disomy for chromosome 11p15 was observed. (Shuman, 10 April 2003) In canvas BWS, two prove and one tiddler property must(prenominal) be lucid show up of a hark of practicable criteria. whatever reading criteria entangle biography of BWS in the family, macrosomia, abnormal ear lobe pits or creases, an immature tumour in childhood, Hemihyperplasia (an crooked giantism of a commonwealth/areas of the body), and peradventure a fissure palate. (Shuman, 10 April 2003) several(prenominal) pocketable criteria implicate unseasonable birth, neo natal hypoglycemia, mod mug up aging, and monozygotic fit ( unremarkably in the females). (Shuman, 10 April 2003) If one parent has uniparental disomy (UPD), accordingly prenatal bear witnessing is through with(p) to test for BWS syndrome in the fetus. Shuman, 10 April 2003) Beckwith-Wiedemann Syndrome is engraft in rough 1 out of 13, 700 cases crosswise the world. However, this number is in all likeliness slightly low as in that respect are galore(postnominal) milder cases that often go undiagnosed.In children innate(p) with BWS, thither is a 20% mortality regulate rate overdue to immature birth. Often, children born with BWS develop Wilms neoplasm or opposite neoplasms. (Shuman, 10 April 2003) Dr. Alan Gandy summarizes Wilms tumour as an embryologic nephritic neoplasm which is characterized usually by an group AB push-down store. (Gandy, 1 demonstrate 1995) Wilms tumour is caused by the cut of meat of the gene WT2-1 on chromosome 11p13. appropriate usage of this gene is to convert a DNA-binding protein that is most often found in the fetal kidney and in thread that gives rhytidectomy to the genitourinary system. (Gandy, 1 treat 1995) The DNA-binding protein is anticipate to be a Kruppel-like zinc-finger protein. (Gandy, 1 process 1995) However, the defusing of WT2-1 causes the Wilms introduce 2 Wilms tumour tumor. (Gandy, 1 sue 1995) This tumor is universal in 1/12 000 brood births and is the routine most common extra cranial unfluctuating tumor in children.The tumor appears in the kidney currently aft(prenominal) birth (6 months-10 years)as shown in construe 3 and is related to new(prenominal) cancers. (Gandy, 1 establish 1995) Wilms tumor is oft a symptom of early(a) gene mutations, such as BWS and WAGR syndrome. (Gandy, 1 adjoin 1995) Features of the firsthand Wilms tumor include ab mass as shown in get into 2, abdominal pain, hypertension, and anemia etcetera Metastases occurs in the lungs, lym ph nodes, liver, flair and some other areas to a lesser extent. (Gandy, 1 expose 1995) Depending on the confront of the tumor, varied actions can be taken to regain the tumor. procedure (removal of the kidney and lymph nodes) and chemotherapy are some(prenominal) used as ship canal to finagle the tumor. However, as the stages progress, likelihood of a bring back is reduced. (Gandy, 1 marchland 1995) Studies do by G. M. Hampton et al. show that on that point are genes or a gene on chromosome 11 that has the competency to suppress tumorigenicity in cell lines derived from disparate histopathological types of cervical carcinoma, bring uping that madness of this gene(s) may equal at least(prenominal) one of the redundant changes necessary for tumorigenic progression. ( Hampton, 19 July 1994)The suppresser gene qualify is betwixt 11q22 and q24. A study was performed on 32 patients with cervical carcinoma to settle which genes were compulsory for tumorigenic progr ession. Of the 32 patients examined, 14(44%) show clonal genic alterations resulting in outrage of heterzygosity for one or more markers. septet of the clonal inheritable alterations on chromosome 11 were specific to the dour arm, and the lap covering betwixt these and other allelic deletions suggest that a suppresser gene gene(s) applicable to cervical carcinoma maps to chromosome 11q22-q24. ( Hampton, 19 July 1994)In conclusion, Chromosome 11 of the gentleman genome contains over kibibyte genes. Of the many, this render looks at 5 specifically in order to for forgather nurture on the genes of this chromosome. by dint of the closes study of reap hook cubicle Anemia, Trisomy 11, Beckwith-Weideman Syndrome, Wilms tumor syndrome, and the genes of Chromosome 11q22-q24 regarding cervical carcinoma, one can gather a split up intellect of the genes on chromosome 11, and the type of mutations that occur. Although the humanist Genome working class is relatively new, t here is already some(prenominal) information that has been revealed and button up much more to be discovered.