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2002| July-December | Volume 8 | Issue 2
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The impact of consanguinity on the Indian population
July-December 2002, 8(2):45-51
Numerous studies have been conducted by Indian anthropologists into the prevalence of both consanguineous and affinal marriage.1-3 and the topic of consanguinity continues to attract great attention among geneticists and social scientists. The strengthening of family relationships is of primary importance in the preference for close kin unions, with economic benefits an additional consideration. Consanguinity does not appear to adversely affect human fertility. However, both postnatal morbidity and mortality are increased, with greatest effect so far observed in the early years of life. With declining mortality and morbidity due to infectious disease, recessive genetic disorders will progressively gain greater prominence in the overall spectrum of ill-health. This change will be especially obvious in communities which practise consanguineous marriage, and in small highly endogamous communities where random drift occurs.
p53 in Brain Tumors : Basic science illuminates clinical oncology
Chitra Sarkar, Sanjay Mukhopadhyay, Mehar Chand Sharma
July-December 2002, 8(2):52-59
p 53 is a tumor suppressor gene known as the "guardian of the genome" It protects cells from cancer, by preventing cells with damaged DNA from proliferating wantonly. This function is achieved by various unique mechanisms. These include cell-cycle arrest, which facilitates cell repair; and apoptosis, which ensures the death of cells too severely damaged to be repaired. We discuss these mechanisms and their significance in tumor biology. The p53 gene enjoys the dubious distinction of being the single most common target for genetic alteration in human tumors. We discuss here the role of p53 and its mutations in astrocytomas and other brain tumors. The study of p53 in astrocytomas is one of the prime examples of the close and fruitful collaboration between molecular biology and clinical practice. After decades of research, it is now accepted that p53 is involved both in the initiation as well as the progression of astrocytomas. A multi-step sequence for the evolution of astrocytomas to glioblastomas has been elucidated. The prognostic significance of p53 expression in brain tumors has also been a matter of extensive research. Finally, we touch upon the therapeutic implications of p53 in astrocytomas. Given the dismal consequences of the absence, malfunction or mutation of this gene, many workers have tried to halt the progression of tumors by reintroducing the wild-type gene as a form of biological therapy. This approach, conceptualized in the laboratory and actualized at the bedside, holds much promise for the treatment of these challenging tumors.
The micronucleus test in urothelial cells of cervix cancer patients
Gursatej Gandhi, Pankaj Sharma
July-December 2002, 8(2):69-72
Cervix cancer continues to be a common malignancy in Indian women in the absence of routine cervix examination. Most cases come to light as referrals of advanced gynecologic complaints. It was proposed to look for micronuclei in bladder cells (as a non-invasive method) of such women subsequently diagnosed with cervix cancer. Urine samples of just diagnosed cancer patients (n=25; 21-80 yrs) and of controls (with other gynecological problems; n=25; 21-70 yrs) were processed for the micronucleus test using standard protocols. Significantly elevated frequency of cells with micronuclei was observed in 72% of the patients as compared to that among controls (16.7%). Percent frequencies of micronucleated cells were highest in patients in stage III; in older patients; in those with younger ages-at-marriage; who had highest number of pregnancies; and were of low socio-economic status. The test in urothelial cells indicates damage in a tissue, which is not the site where cervix cancer develops. As it utilizes a non-invasive procedure of sampling, if validated it may find use in mass screening of cervix cancer.
Teaching of medical genetics in the medical colleges of India - Way ahead
K Ghosh, D Mohanty
July-December 2002, 8(2):43-44
Clinical experience with the use of Fluorescence in Situ Hybridization on uncultured cells for prenatal diagnosis
Deepak N Modi, Deepa Bhartiya
July-December 2002, 8(2):60-65
The aim of the study was to prospectively evaluate the usefulness and limitations of Fluorescence In Situ Hybridization (FISH) on uncultured cells for prenatal diagnosis of numeric aneuploidies of chromosomes 13, 18, 21, X and Y. Hundred prospectively selected pregnant women that were at high risk of giving birth to an abnormal child were offered prenatal diagnosis by FISH after appropriate counseling. Fetal tissue was obtained by chorionic villus sampling (n=26), amniocentesis (n=62) and or fetal blood sampling (n=12) and processed for FISH using commercial probes. Six cases were excluded initially owing to maternal blood contamination or inadequate sample. FISH results were available in 98% of cases, in 2% of cases there was FISH failure. Of the remaining 92 cases, chromosome aneuploidy was detected in eleven cases. FISH was found extremely valuable in cases presenting with fetal abnormalities detected on ultrasonography and also for rapid screening of aneuploidies in cases of abnormal triple marker test. But as the diagnosis is limited to only a small number of chromosomes, appropriate evaluation of the cases with counseling regarding the limitations of FISH is mandatory before offering this test for prenatal diagnosis.
Chromosomal analysis in recurrent spontaneous aborters
Lakshmi V Kalpana, M Satyanarayana, S Prabahker, R Sarvani
July-December 2002, 8(2):66-68
A type of endomitotic chromosome reduplication in the interphase stage of cell cycle was found in lymphocyte cultures of couples with spontaneous abortions. To find out the presence of this anomaly chromosomal analysis was performed in a series of 20 women with repeated spontaneous abortions and their husbands. Demographic data was also collected from them. Out of 40 individuals, a 27 years male whose wife has experienced three spontaneous abortions was found to have Endoreduplication. His wife was normal with 46, XX chromosomal complement.
Down syndrome with fragment X - A case report
Aruna N, Preetha Thilak, Sayee Rajangam
July-December 2002, 8(2):73-74
This article reports a case of four-month-old female infant referred to Division of Human Genetics, St. Johns' Medical College, for karyotyping with suspicion of Down syndrome. On karyotyping all analysed spreads showed trisomy 21 but a few spreads (6.66%) showed fragment X. X was broken at the centromere and both short and long arms were present in the spread. GTG bands of the two fragments correlated with the normal X counter parts. The mechanism behind isochromosome formation is discussed. Thus, this case is free trisomy 21 for Down syndrome and a mosaic for the X structural anomaly.
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