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In this paper I will be studying chromosome 11 of the human genome.

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Biology ISU Chromosome 11 By: Rachel Williams SBI 4U Teacher: Mr. Pigeon December 5, 2003 In this paper I will be studying chromosome 11 of the human genome. Specifically, I will be researching some of the diseases that occur when there are mutations in the genes on chromosome 11. Five specific diseases will be looked at and studied 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 Tumor syndrome, and finally, the work being done on the genes of Chromosome 11q22-q24 regarding cervical carcinoma. The following research was all acquired from the NCBI online database. The HBB gene which causes Sickle Cell Anemia, is found on chromosome 11p15.4. This gene causes an inherited blood disorder, mainly effecting people from the African continent (1/500), but also people from the Mediterranean and South Asian countries.(NCBI Online, 24 June 2003) Approximately 8% of the African American population are carriers; often, this gene is associated with malaria occurrence, as carriers are somewhat protected against malaria. (NCBI Online, 24 June 2003) ...read more.


Their studies show that "chromosome abnormalities involving 11p15 are found in 1% or less of cases." (Shuman, 10 April 2003) This syndrome can occur with mutations of many different genes on chromosome 11: mutations in genes IGF2 and H195, 5-10% of sporadic cases and 40% of familial cases had mutations in the CDKNIC gene, 50% of cases had a loss 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 major and one minor characteristic must be obvious out of a list of possible criteria. Some major criteria include: history of BWS in the family, macrosomia, abnormal earlobe pits or creases, an embryonal tumor in childhood, Hemihyperplasia (an asymmetric overgrowth of a area/areas of the body), and possibly a cleft palate. (Shuman, 10 April 2003) Some minor criteria include: premature birth, Neonatal hypoglycemia, advanced bone aging, and monozygotic twinning (usually in the females). (Shuman, 10 April 2003) If one parent has uniparental disomy (UPD), then prenatal testing is done to test for BWS syndrome in the fetus. (Shuman, 10 April 2003) ...read more.


Of the many, this essay looks at 5 specifically in order to gather information on the genes of this chromosome. Through the closes study of Sickle Cell Anemia, Trisomy 11, Beckwith-Weideman Syndrome, Wilm's Tumor syndrome, and the genes of Chromosome 11q22-q24 regarding cervical carcinoma, one can gather a better understanding of the genes on chromosome 11, and the type of mutations that occur. Although the Humane Genome Project is relatively new, there is already much information that has been revealed and still much more to be discovered. REFERENCE LIST "Anemia, Sickle Cells." NCBI Online. 24 June 2003. 28 October 2003. <http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.section.98> "Chromosome 11, Partial Trisomy." Genetic Information and Patient Services Home Page. 28 November 2003. < http://www.icomm.ca/geneinfo/ch11pt.htm> Dessen, P., Huret, J.L. Chromosome 11: Atlas Genet Cytogenet Oncol Haematol. 2002. 28 October 2003 <http://www.infobiogen.fr/services/chromcancer/Anomalies/tri11.html> Gandy, A. Wilms Tumor. 1 March 1995. 27 October 2003 <http://www.icondata.com/health/pedbase/files/WILMS'TU.HTM> Hampton G.M., et al. "Loss of Heterozygosity in Cervical Carcinoma: Subchromosomal Localization of a Putative Tumor-Suppressor Gene to Chromosome 11q22-q24." PubMed Central Online. 19 July 1994. 28 October 2003. <http://www.pubmedcentral.gov> Schnittger, S., et al. "Screening for MLL tandem duplication in 387 unselected patients with AML identify a prognostically unfavorable subset of AML." PubMed Central Online. May 2000. 1 October 2003. < http://www.pubmedcentral.gov> Shuman, C. and Weksberg, R. Beckwith-Wiedemann Syndrome. 10 April 2003. 27 October 2003 <http://www.geneclinics.org/profiles/bws/> ...read more.

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