RESUMO
Ring chromosome aberration are rare abnormality potentially involving any chromosome in patients diagnosing in Oncology. The present review and case study has focused on the ring chromosome associated with oncology malignancies. An electronic peer review article search was performed systematically to obtain relevant literature with the CINAHL, Google scholar, and Pub Med databases. The keywords included marker, abnormalities, structural, Ring chromosome. The inclusion criteria for the review were that the documents were original quantitative research and published in English. This was also initiated using Medline, Mitelman database [http:/cgap.nci.nih.gov/Chromosomes/Mitelman], Danish cytogenetic register and other pertinent web references on ring chromosomes in Oncology malignancies. Articles that were not directly relevant to the present objective were excluded. Also the un-stimulated bone marrow specimen of present case manipulated with Methotrexate cells culture synchronization and finally was treated by GTG-banding technique. Ring chromosome was observed in 10% of the total cells. Cytogenetic analysis demonstrated apparently ring [15] 46, XY, r[15] karyotype. The clinical findings revealed history of nausea, loss of appetite, diarrhea, night sweats, and a weight loss, anemia and diagnosed as accelerated CML. Our finding adds to the spectrum of both morphology and genetic rearrangements in oncology malignancies. Additional future analyses in similar subject will be necessary to draw firm conclusions
RESUMO
Familial form of polycystic kidney disease which is inherited as an autosomal dominant pattern is one of the most common form of kidney disease. The main manifestation of this disease is the presence of growing cysts in kidney which results in malfunction of kidney. The frequency of disease is one in 1000 living birth. Mutation in one of the three different genes could result in developing polycystic kidney disease. Genetically analysis has been able to identify two of the genes, PKD1 and PKD2, located on chromosome 16 and chromosome 4 respectively. The location of the third gene remains unrevealed and the frequency of families affected due to the mutation on this gene is very low. By applying microsatellites tightly linked to the identified polycystic kidney disease genes, affected families referred from East Azerbaijan were genetically analyzed. Families with at least three affected members by polycystic kidney disease were studied. Polymorphic microsatellites from the regions of PKD1 and PKD2 were selected by studying the members of these families. All members of the families were investigated by the polymorphic markers to study linkage analysis. Out of 13 families with 99 members referred by specialists, 7 families with 75 members were selected on the base of availability. Disease in three of these families showed linkage with PKD2 gene and in one family linkage was found between the disease and PKD1 gene. In another family linkage was observed with neither PKD1 nor PKD2 genes. None of the markers were informative in two of the families; therefore these families were excluded from the studies. Most of the families with polycystic kidney disease from North West of Iran, showed linkage with PKD2 gene. One of the families did not show linkage with any of the known genes. In this family, disease could be due to mutation in the third gene which remains to be identified