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Table of Contents
April-June 1999
Volume 5 | Issue 2
Page Nos. 1-42
Online since Tuesday, April 21, 2009
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Genetic Analyses Of Plasma ApoCII By Two-Dimensional Gel Electrophresis In Two Population Groups Of Panjab
p. 1
Puneetapal Singh, Sarabjit Singh Mastana, Monica Singh, Nancy Dhillon
In order to study genetic variability of apolipoprotein C-II in Ramgarhias and Ramdasias, two-dimensional gel electrophoresis with the combination of isoelectric focusing (IEF) and density gradient SDS-polyacrylamide gel electrophoresis (DG-SDS-PAGE) have been employed. ApoC-II exhibits three common polymorphic alleles CII-1, CII-2 and CII-3 with pooled frequencies of 0.883, 0.110 and 0.007 respectively. The rare allele CII-4 is absent in these two groups. Mean heterozygosity is found to be 0.208+ 0.024 at apoC-II structural locus. The frequency of apoCII-2 in Punjab is observed to be the highest in the world except Ukainers.
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Dissimilar Deletion In DMD Gene Of Two Brothers : A Case Study
p. 5
V P Joshi, N V Khalap, S V Khadilkar, S K Mahajan
Two brothers who are affected by DMD were studied with respect to CPK assay, muscle biopsy and deletion analysis of their DNA. The severity of phenotype in these two brothers is comparable. Onset of the disease in both the cases was at 4 years of age. CPK values obtained at the age of 10 years for the elder brother and 6years for the younger one were 2550 IU and 1650 IU respectively. Muscle biopsy of the patients indicated dystrophy. PCR analysis of the patient's DNA was carried out for deletion detection in DMD gene. The deletion pattern observed for these two cases was found to be quite different from each other. In case of the elder brother, deletion was found to be expanding exons 8-13 whereas, for the younger brother exons 8-13 as well as exons 43-45 were found to be deleted.
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SCE Analysis In Treated And Unteated Leprosy Patients
p. 11
Satbir Kaur, Vasudha Sambyal, Sukhwinder Kaur Rai
Spontaneow sister chromatid exchange (SCE) frequency was studied in fifteen leprosy patients and twelve age matched controls. The mean SCH/cell was 10.23 + 4.1 in controls. The three untreated patients had mean SCE/cell value of 20.3 + 1.41. Among patients under treatment, five patients in initial stage of disease and treatment duration between one to nine months, the mean SCE/cell value was 29.78 + 4.244. In the seven patients with advanced stage of disease and treatment duration between 20 to 50 months, the mean SCE/cell value was 31.87 + 7.31. The results indicate a clastogenic effect of leprosy on peripheral leucocytes, which was increased due to anti-leprosy treatment.
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Evaluation Of LP (a) As A Risk Predictor For CAD In Angiorgaphiclly Tested Inividuals And Asymptomatic Controls
p. 15
G Beena, Krishana Reddy, B S Raju, T Padma
Coronary Artery Disease (CAD) has reached epidemic proportions and has been attributed as the foremost cause of mortality worldwide. In the search for the causative factors, both genetic and non-genetic, Lipoprotein (a) has emerged as a powerful predictor for premature CAD. Lp(a) is a macromolecular complex found in human serum, strictly under genetic control, highly variable and resembling the low density lipoprotein cholesterol. In the present study, an attempt has been made to evaluate its predictive role by estimating its levels in patients with and without coronary artery disease (CAD) diagnosed by angiographic procedure. It was observed that Lp(a) levels increase with increasing severity of the disease albeit insignificantly. The observations made in the present study need to be substantiated by large scale studies.
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Serum Lactate Dehydrogenase (LDH) Levels In Breast Cancer
p. 21
Anupama shrinivasan, A R Poongothai, Chandrasekhar.S Rao, M Srinivasulu, S Vishnupriya
L-Lactate dehydrogenase is an oxidoreductase that catalyzes the reversible inter-conversion of pyruvate to L-lactate under anaerobic conditions. Levels of Lactate dehydrogenase are known to be elevated in the blood stream following severe tissue injuries and necrosis. Since cancer is a proliferating and invasive disease known to cause severe tissue damage and tumour cells respire anaerobically, the present study was planned to evaluate variations in the levels of serum LDH in breast cancer as compared to normal. LDH levels were estimated in 130 patients with a confirmed diagnosis of breast cancer and also in 110 healthy age matched randomly selected controls. Appropriate statistical tests were used to assess variations in LDH levels with respect to the presence of disease, age at onset and menopausal status of the proband, stage of the disease and mode of anti-cancer therapy followed Lactate dehydrogenase levels were found to be significantly elevated in breast cancer (302.45 + 7.67) as compared to control (173.77 + 3.4). Significant elevations in LDH levels were also observed with increasing age at onset, onset of menopause, advance stage of cancer and due to the anti-cancer treatment followed. These results suggest an immense potential for LDH as a prognostic marker for breast cancer.
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Blood Groups Of The Kharwar Of Garhwa District In Palamau Division Of Bihar State, India
p. 27
N Kumar, Nidhi Sharma, Arbindo.M Singh
One hundred individuals of the Kharwar, a scheduled tribe, residing in Garhwa and Palamau districts of Bihar state, were tested for four genetic characters, namely, ABO, MNS, Rh blood group systems and the sickle-cell trait. The results indicate that the frequency of A1 phenotypes (27%) was lower than B (38%) and the frequency of Phenotyope A2 is almost negligible. In case of Rh blood groups, the frequency of R1 (CDe) was high (0.8500) whereas Rh negative (cde) gene was absent. The frequencies of R2 (cDE) and Ro (cDe) genes were found to be 0.1055 and 0.0444 respectively. Rz (CDE) allele was found to be absent. In case of MNS blood group system, Ms gene frequency was found to be the highest (0.41 74) followed by Ns frequency (0.2534) whereas frequency of MS and NS were almost similar (0.1676 and 0.1616, respectively). No case of sickling was found among the Kharwars tested for this trait. The results of the present study are compared with other tribal and non-tribal populations studied from the neighbouring area.
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Genotoxic Effects On Photocopying Workers : A Statistical Investigation
p. 37
Iravathy Goud, Hanumatha.P Rao, Y R Ahuja, S N N Pandit, V V Haragopal
Photocopiers are a source of employment for a large number of people. The personnel working with photocopiers are commonly exposed to toners and their by-products during reloading and running of the machines. The main components of these toners are carbon black, styrene, resins, formaldehyde and polycyclic aromatic hydrocarbons (PAHs) and they are known to be genotoxic. For possible genotoxic effects of occupational exposure to photocopying machines, the present study was undertaken on 29 exposed and 26 control subjects. DNA damage war studied on their peripheral blood leukocytes, using comet assay. DNA repair studies were also undertaken on 10 exposed and 10 control subjects. 50 cells per treatment per individual were scored for comet tail length which is an estimate of DNA damage. The control and the exposed groups show clear difference in the mean tail length of the comets and the standard deviations. The scatter in the individual measurements is also high in the exposed group as compared to the control group.
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© 2006 - Indian Journal of Human Genetics | Published by
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Online since 1
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February, 2006