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Chromosome 18 Research Paper

3497 words - 14 pages

INTRODUCTION:Chromosomes are fundamental to all life. There are 22 numbered pairs of chromosomes, plus two sex chromosomes. The sex chromosomes in females are the two X chromosomes and in male they are an X and a Y chromosome. Human have 23 pair of chromosomes. Each chromosome has been assigned a number from largest to the smallest, the largest chromosome being number one. Therefore chromosome 18-chromosome studied in this paper- is one of the smallest. The genetic code of the chromosome is made of deoxyribonucleic acid-DNA. The structure of the DNA creates the alphabet and therefore the language of the genetic code. Each chromosome is a single very long piece of DNA and the genes are ...view middle of the document...

Approximately 5% of patients present symptoms requiring treatment, the most frequent complaints being bone pain, enlargement, and deformities at the pagetic site. other manifestations of the disease include increased susceptibility to fractures, deafness, and neurologic complications. PDB is the second-most common metabolic bone disease after osteoprosis. This is more common in Western countries; conversely, it is extremely rare in china and most of sub-Saharan Africa.Reports of familial clustering, coupled with the demographics of PDB, indicate that genetic factors play an important role in its etiology. In 1972, an autosomal dominant mode of inheritance was proposed. Familial-aggregation studies indicate that subjects with a first-degree relative affected by PDB have a relative risk of 7 for developing the disease . A recent study from Spain, utilizing bone scans to identify subclinical disease, documented that 40% of patients had at least one affected first-degree relative .Paget disease of bone is genetically heterogeneous. In Some cases (PDB2) are caused by mutation in the TNFRSF11A gene -603499- on chromosome 18q22.1, which encodes RANK, a protein essential in osteoclast formation. The phenotype linked to chromosome 5q35 (PDB3) is caused by mutation in the SQSTM1 gene -601530-, the product of which is associated with the RANK pathway. Other disease loci have been mapped to 6p -PDB1; 167250-, 5q31 -PDB4; 606263-, and 18q23. in this report the linkage of Paget disease of bone to novel region on human chromosome 18q23 is studied.MATERAIL and METHODS:On the experiments reported in this paper to identify the linage of Paget disease of bone to a novel region on human chromosome 18q23 several methods is used. In the first experiment, that its results are shown in the figure 1 DNA was extracted from blood by the slating-out method. Its genetic linkage analysis was carried out using FASTLINK v4.1. Then simple counting estimate was used to calculate allelic frequency in the pedigree. The differences in age at diagnosis were analyzed by using the Wilcoxon rank-sum test. To ensure all markers were genotyped for same number of individuals, missing genotypes were completed, and further mapping was perfored by manual genotyping in the laboratory. Genotyping for genowide-scan markers in the region of interest was repeated manually.Haplotype analysis of markers flanking the region of interest was conducted using six markers spannung a 9cM region telomeric to and including D18S1161.RESULTS:Chromosome 18, the site of study 18q23Symbol OLinkOutECytoDLGAP1OMIMsvprdlevmmhmC 18p11.3FLJ35936svprdlevmmC 18p11.31-p11.23PTPRMOMIMsvprdlevmmhmC 18p11.2EHZFsvprdlevmmhmC 18q11.2NOL4OMIMsvprdlevmmhmC 18q12DTNAOMIMsvprdlevmmhmC 18q12KIAA1328svprdlevmmhmC 18q12.2BRUNOL4svprdlevmmhmC 18q12RIT2svprdlevmmhmC 18q12.3SETBP1svprdlevmmhmC 18q21.1KIAA0427svprdlevmmhmC 18q21.1FLJ20071OMIMsvprdlevmmhmC 18q12-q21.1MYO5BOMIMsvprdlevmmhmC 18q12DCCOMIMsvprdlevmmhmC...

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