Studying chromosome 11 of the human genome

In this pamphlet I earn be examineing chromosome 11 of the cosmical genome. Specifically, I earn be scrutinying some of the illnesss that happen when there are contrarietys in the genes on chromosome 11. Five biased illnesss earn be looked at and thought-out in detail: the Sickle Cell Anemia gene, the MLL gene which causes Trisomy 11, the H19 gene which causes Beckwith-Weideman Syndrome, the WT1 and PAX6 genes which causes Wilm's Knob syndrome, and finally, the composition life executed on the genes of Chromosome 11q22-q24 in-reference-to cervical carcinoma. The subjoined scrutiny was all habitual from the NCBI online database. Read this Ch. 22 Respiratory System The HBB gene which causes Sickle Cell Anemia, is set on chromosome 11p15. This gene causes an ancestral dignity quackery, largely effecting living-souls from the African continent (1/500), but besides living-souls from the Mediterranean and South Asian countries. (NCBI Online, 24 June 2003) Closely 8% of the African American population are carriers; repeatedly, this gene is associated following a while miasma happenrence, as carriers are partially fortified athwart miasma. (NCBI Online, 24 June 2003) Sickle cell anemia is an autosomal (not sex cognate) recessive illness caused by a contrariety in the hemoglobin beta gene. When a contrariety happens, the HBB gene fruits a structurally unnatural hemoglobin (Hb), designated HbS. (NCBI Online, 24 June 2003) Hb is a protein which carries oxygen and gives red dignity cells their eminent complexion. In beings who are homozygous for HbS, the unnatural HbS can subjoining concertedly, distorting the red dignity cells into sickled shapes [as pretencen in Figure 1]. These clusters can simply happen if the HbS is placed subordinate true qualification or stipulations, such as noble hemoglobin concentrations or low oxygen levels. NCBI Online, 24 June 2003) When the mutated and unflexible red dignity cells grace trapped following a whilein diminutive dignity vessels, they stop the vessels causing abstinence and regular injury to the organs in the magnitude. (NCBI Online, 24 June 2003) Although a repay has not yet been set, medical advancements feel allowed for the treatment of notes and complications associated following a while Sickle Cell Anermia. Hydroxyurea, an antiknob garbage, has been used to imperil the structure of fetal Hb (HbF), which is recognizedly set in the fetus or newborn. When fetal Hb is exhibit in living-souls following a while Sickle Cell Anemia, Hydrozyurea can forefend sickling from happening. NCBI Online, 24 June 2003) The MLL gene which causes Trisomy 11 is located on chromosome 11q23. A contrariety in this gene is a "very costly chromosomal quackery caused by a duplication (trisomy) of the end (distal) piece of the hanker arm of chromosome 11. " (Genetic Instructure and Patient Services, November 2003) This quackery is most repeatedly big at nobility; some idiosyncrasy features of the quackery are "delayed intangible and natural crop, retarded augmentation of the fetus during pregnancy and of the branch following nobility, an unusually diminutive brain (microencephaly), and/or eminent facial features. (Genetic Instructure and Patient Services, November 2003) The MLL gene can fruit a likeness of leukemia which effects twain sexes and largely adults at an middle age of 60. (Dessen & Huret, 2002) In unconcealed moods, trisomy refers to "the mood of having three copies of a ardent chromosome in each somatic cell rather than the recognized sum of two. " (Dictionary. com) The leukemia is biasedally quick myeloid leukemia or AML. This syndrome is caused by simply a local tandem duplication of the MLL gene on chromosome 11. Dessen & Huret, 2002) A late examine has pretencen that "MLL tandem duplications are near base than previously reported. " (Schnittger, October 2003) Also, the MLL tandem duplications "are preferentially observed in AML following a while recognized karyotypes, but can besides be set in the nearness of chromosome alterations. " (Schnittger, October 2003) Two scientists, Cheryl Scosmical and Rosanna Weksberg thought-out the Beckwith-Wiedemann Syndrome, besides referred to as BWS syndrome. The instructure for BWS syndrome is from their reports on their studies. Their studies pretence that "chromosome unnaturalities involving 11p15 are set in 1% or near of cases. " (Shuman, 10 April 2003) This syndrome can happen following a while contrarietys of abundant contrariant genes on chromosome 11: contrarietys in genes IGF2 and H195, 5-10% of antipathetic cases and 40% of familial cases had contrarietys in the CDKNIC gene, 50% of cases had a waste of methylation at the KCNQIOT1 gene, and in 10-20% of patients, "paternal uniparental disomy for chromosome 11p15 [was] observed. " (Shuman, 10 April 2003) In diagnosing BWS, two senior and one less idiosyncrasy must be apcreator out of a roll of potential criteria. Some senior criteria grasp: fact of BWS in the extraction, macrosomia, unnatural earlobe pits or creases, an embryonal knob in branchhood, Hemihyperplasia (an asymmetric aggravateaugmentation of a area/areas of the magnitude), and perhaps a gap palate. (Shuman, 10 April 2003) Some less criteria grasp: precocious nobility, Neonatal hypoglycemia, deceased plague aging, and monozygotic twinning (usually in the females). (Shuman, 10 April 2003) If one creator has uniparental disomy (UPD), then prenatal examinationing is executed to examination for BWS syndrome in the fetus. Shuman, 10 April 2003) Beckwith-Wiedemann Syndrome is set in closely 1 out of 13, 700 cases athwart the globe. However, this sum is probably partially low as there are abundant milder cases that repeatedly go undiagnosed. In branchren born following a while BWS, there is a 20% death rebuke due to precocious nobility. Often, branchren born following a while BWS disclose Wilms Knob or other knobs. (Shuman, 10 April 2003) Dr. Alan Gandy summarizes Wilms knob as an "embryonal renal neoplasm which is characterized usually by an abdominal magnitude. (Gandy, 1 March 1995) Wilms tumour is caused by the deletion of the gene WT2-1 on chromosome 11p13. Proper capacity of this gene is to encode a DNA-binding protein that is most repeatedly set in the fetal kinsfolk "and in texture that gives ascend to the genitourinary arrangement. " (Gandy, 1 March 1995) The DNA-binding protein is expected to be a "Kruppel-like zinc-finger protein. " (Gandy, 1 March 1995) However, the inactivation of WT2-1 causes the Wilms Figure 2: Wilms Knob knob. (Gandy, 1 March 1995) This knob is usual in 1/12 000 speed nobilitys and is the relieve most base extra cranial hard knob in branchren. The knob appears in the kinsfolk before-crave following nobility (6 months-10 years)[as pretencen in Figure 3] and is cognate to other cancers. (Gandy, 1 March 1995) Wilms knob is regularly a note of other gene contrarietys, such as BWS and WAGR syndrome. (Gandy, 1 March 1995) Features of the Primary Wilms knob grasp abdominal magnitude [as pretencen in Figure 2], abdominal abstinence, hypertension, and anemia etc. Metastases happens in the lungs, lymph nodes, speedr, brain and other areas to a nearer quantity. (Gandy, 1 March 1995) Depending on the station of the knob, contrariant actions can be taken to repay the knob. Surgery (opposition of the kinsfolk and lymph nodes) and chemotherapy are twain used as ways to handle the knob. However, as the stations movement, advent of a repay is base. (Gandy, 1 March 1995) Studies executed by G. M. Hampton et al. pretence that there are genes or a gene on chromosome 11 that has the power to "[suppress] knobigenicity in cell lines ascititious from contrariant histopathological likenesss of cervical carcinoma, allude-toing that hallucination of this gene(s) may reexhibit at lowest one of the attached changes required for knobigenic movemention. ( Hampton, 19 July 1994) The stopor gene biased is between 11q22 and q24. A examine was effected on 32 patients following a while cervical carcinoma to finish which genes were required for knobigenic movemention. "Of the 32 patients examined, 14(44%) demonstrated clonal genetic alterations resulting in waste of heterzygosity for one or aggravate markers. Seven of the clonal genetic alterations on chromosome 11 were biased to the hanker arm, and the aggravatelap between these and other allelic deletions allude-to that a stopor gene(s) pertinent to cervical carcinoma maps to chromosome 11q22-q24. "( Hampton, 19 July 1994) In omission, Chromosome 11 of the Cosmical genome contains aggravate 1000 genes. Of the abundant, this essay looks at 5 biasedally in direct to subjoin instructure on the genes of this chromosome. Through the closes examine of Sickle Cell Anemia, Trisomy 11, Beckwith-Weideman Syndrome, Wilm's Knob syndrome, and the genes of Chromosome 11q22-q24 in-reference-to cervical carcinoma, one can subjoin a meliorate subordinatestanding of the genes on chromosome 11, and the likeness of contrarietys that happen. Although the Humane Genome Project is proportionately new, there is already ample instructure that has been orthodox and stagnant ample aggravate to be discovered.