Indian Journal of Human Genetics

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Genotoxic Effects On Photocopying Workers : A Statistical Investigation.
(1999-04) Goud, Iravathy; Rao, Hanumatha P; Ahuja, Y R; Pandit, S N N; Haragopal, V V
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.
Blood Groups Of The Kharwar Of Garhwa District In Palamau Division Of Bihar State, India.
(1999-04) Kumar, N; Sharma, Nidhi; Singh, Arbindo M
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.
Serum Lactate Dehydrogenase (LDH) Levels In Breast Cancer.
(1999-04) shrinivasan, Anupama; Poongothai, A R; Rao, Chandrasekhar S; Srinivasulu, M; Vishnupriya, S
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.
Evaluation Of LP (a) As A Risk Predictor For CAD In Angiorgaphiclly Tested Inividuals And Asymptomatic Controls.
(1999-04) Beena, G; Reddy, Krishana; Raju, B S; Padma, T
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.
SCE Analysis In Treated And Unteated Leprosy Patients.
(1999-04) Kaur, Satbir; Sambyal, Vasudha; Rai, Sukhwinder Kaur
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.
Dissimilar Deletion In DMD Gene Of Two Brothers : A Case Study.
(1999-04) Joshi, V P; Khalap, N V; Khadilkar, S V; Mahajan, S K
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.
Genetic Analyses Of Plasma ApoCII By Two-Dimensional Gel Electrophresis In Two Population Groups Of Panjab.
(1999-04) Singh, Puneetpal; Mastana, Sarabjit Singh; Singh, Monica; Dhillon, Nancy
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.
GenSoft 2000 : A New Software For Detecting Genetic Diseases.
(1999-01) Dhar, Pawan Kumar; Kumar, Yeshwant
A user-friendly software GenSoft 2000 was developed using Visual Basic 6.0 and MS Access 97 to accurately diagnose the genetic basis of a clinical condition. In view of the complexity of the overlapping features of the clinical conditions, one needs to know the literature back up facility, which is generated through automated packages. GenSoft 2000 is one such version of the software used in diagnosing a genetic disorder and an upgraded version will be aimed at providing features like pedigree drawing and linkage analysis.
Hormonal Studies In Primary Amenorrhea.
(1999-01) Kalpana, V Lakshmi; Satyanarayana, M; Udayakumar, D; Babu, V Raj
Values of serium Tri ido Thyronine (T3), Thyroxine (T4) thyroid stimulating hormone (TSH) Follicle stimulating hormones (FSH) are established in 70 primary amenorrhea cases. In chromosomally abnormal cases, the follicle stimulating values are elevated and it is further interesting to note that all these cases have mossaicism 45,X/46,XX. In 4 chromosomally abnormal cases Tri ido thyronine (T3), thyroxine (T4) and thyroid stimulating hormone (TSH) have shown abnormal values. Out of these 4 cases, 2 cases were with 45,X and 2 cases with 45,X/46,XX chromosome complement. All these cases have gonadal dysgenesis, with short stature and underweight.
Haemoglobin Variants In Some Ethnic Groups Of Punjab (North India).
(1999-01) Kaur, Rajinder; Kaur, Harsurinder
A total of 1,312 blood samples were electrophoresed for haemoglobins using three buffer systems. The data comprised of 467 Jut Sikh, 271 Khatri, 355 Brahmins and 219 Banias. Ten cases of both slow and fast type of variant haemoglobins were observed Family studies conducted showed that eight of the variants were inherited in nature, whereas the remaining two were transient type.
Time And Temperature Effects On In-Vitro Sperm Chromatin and Stability.
(1999-01) Rao, K M
Semen samples were collected both from men with or without children. Sperm wash preparations were made and the samples were studied at different temperatures and times of incubations for genome packaging efficiency. It is found that sperm chromatin decondensation study could be optimised with SDS reagent if the temperature was 37 degrees and time of incubation was 30 minutes. Similarly, SDS & EDTA, optimum time was 15 minutes at body temperature, thus affecting results of the study. Below, the body temperature the reaction is slow and does not mimick the in-vivo process.
A Study On The Genetics Of Sense Of Humour.
(1999-01) Ahuja, Y R; Arya, Saroj; Vazir, Shahnaz; Rao, K Visweswara; Vishnupriya, S
An attempt was made to assess the role of genetic factors in the expression of humour. The IPAT Humour Test was used to evaluate humour as a quantitative parameter. Correlation coefficients were calculated between pairs of first degree relatives. Variation in mean scores obtained for each of the 13 components of humour for the comparable pairs was high, and the correlations in general were poor. Our results may be explained on the basis of cultural and environmental influences.
Risk Figures For Vitiligo Among The Relatives Of The Probands.
(1999-01) Rao, Hanmanth P; Waheed, M A; Hussain, S J
A study of 720 probands of vitiligo with positive family history indicated early mean age at onset for the female probands (19.68 + 17.76) as compared to male probands (25.43 + 13.87). The incidence of the condition among the biological relatives of the patients studied showed a prevalence rate of 7.31% which is considerably high from the prevalence of 0.95% of the condition observed in the population of our country. The risks estimated for different relatives of the proband indicated higher risk for progeny of the proband as compared to the sibs. The risk for the cousins of the probands was about two to three folds higher as compared to that in the offsprings and the sibs.
Spontaneous Expression Of Fragile Site at Xq27.3 In a Fragile X patient.
(1999-01) Bhaskaran, Sujatha; Tilak, Preetha; Lincoln, Shavanthi; Thomas, I M; Brahmachari, Vani
Fragile site at Xq27.3 is classified as a rare fragile site which is observed only under conditions of folate depletion Here we report a case where fragile site at Xq27.3 was detected in normal RPMI 1640 medium without induction, in the lymphocytes of a patient clinically diagnosed as fragile X patient. At the molecular level both an expansion and methylation of (CGG)n repeat at FMRI was detected.
Apolipoprotein E Polymorphism In Two Populations Of Andhra Pradesh.
(1999-01) Venkatramana, P; Reddy, Chengal; Ferrell, R E
Apolipoprotein (apo) E genotypes were determined on 182 subjects of Kshatriya and 38 subjects of the Mala populations of Andhra Pradesh. Five genotypes (2/3, 2/4, 3/3, 3/4, 4/4) in the Kshatriya and three genotypes (2/3, 3/3, 3/4) in the Mala, representing three common alleles (e2, e3 and e4 allele frequencies were 0.052, 0.852 and 0.096 for the Kshatriyas and 0.040, 0.921 and 0.040 for the Malas, respectively). No significant difference was observed between these two populations for apolipoprotein (apo) E polymorphism. The genotypic distribution of apoE was at Hardy-Weinberg equilibrium in these two populations. Wide ranges of differences were observed in allele frequencies between populations of the world.
HLA Antigen And Haplotype Frequencies In Bhargavas And Chaturvedies Of UP (India).
(1999-01) Agrawal, Suraksha; Arundhati, K; Bhardwaj, Uddalak; Bhatnagar, Suhasini
In the present study, two endogamous caste groups of U.P., viz; Bhargavas and Chaturvedies, subgroups of the major ethnic group of Brahmins were typed for HLA antigen and haplotype frequencies. Gene pools of these two groups may be unique and well preserved because of socio-cultural barriers and strict endogamy. Our results revealed that these two populations are indeed different from each other and that the different populations of India cannot be considered as a single panmictic population.
An Increased Incidence Of C-Band Heteromorphism In Hereditary Breast Cancer Patients and Their Healthy Blood Relatives An Indian Experience.
(1999-01) Roy, Shambhu K; Trivedi, Amit H; Bakshi, Sonal R; Patel, Shailesh J; Shukla, Pina H; Jyotsna, M; Bhatavdekar; Patel, Devendra D; Shah, Pankaj M
Healthy blood relatives (HBR) of the hereditary breast cancer (HBC) patients are considered to be at higher risk to develop cancer. However, all of them do not suffer from same. This may indicate the possibility of association with genetic polymorphism among them. We have studied this genetic polymorphism in terms of C-band heteromorphism among 11 HBC patients, 36 HBR and results were compared with 22 control females. Significantly higher incidence (p < 0.001) of C-band heteromorphism has been observed among the HBC patients and their HBR as compared to the control females. At the same time, however, the difference in incidence of C-band heteromorphism among HBC patients and their HBR were not statistically significant. The findings indicate possibilities of (i) an association between C-band heteromorphism and hereditary breast cancer, and (ii) C-band heteromorphism may be one of the important factors conferring HBR at an elevated risk to develop the breast cancer.
Development And Application Of Tests With Human Derived Cells For The Detection Of Environmental Genotoxins.
(1998-04) Knasmuller, S; Uhl, M; Darroudi, Firouz; Mersch-Sundermann, V; Bader, A; Sanyal, R; Schwab, Christina; Hietsch, G; Parzefall, W; Natarajan, A T
Two novel approaches are described, in which metabolically competent human derived cells were used for the detection of genotoxic effects of environmental carcinogens. In the first, human hepatoma (Hep G2) cells were used for micronucleus and single cells were used for micronucleus and single cell gel electrophoresis (SCGE) assays. These cells have retained the activities of phase I and phase II enzymes which are usually lost during cultivation. We demonstrated that these cells are suitable for the detection of the genotoxic effects of representatives of various classes of DNA-reactive procarcinogens such as benzo(a) pyrene (B(a)P), 2-amino-3-methylimidazo-[4,5-f]-quinoline (IQ), cyclophosphamide (CP), and N-nitrosodimethylamine (NDMA), isatidine and aflatoxin B1 (AFB1). Furthermore, we found that these tests also detect the mutagenic effects of rodent carcinogens such as safrole and hexamethylphosphoramide (HEMPA), which give negative results in conventional in vitro procedures. Additional experimental series showed that genotoxicity assays with Hep G2 cells are also useful for the detection of co- and antimutagens, in particular for compounds which act via induction of activating and detoxifying enzymes. In the second approach, a protocol for stable co-cultivation sandwich cultures with primary human hepatocytes was used. The cultivation of the cells under organotypical conditions leads to an extension of their life span and results in an improved expression of drug metabolising enzymes. Two different experimental models were developed: In the first, the induction of HPRT mutations in V-79 cells was used as an endpoint, in the seconds, single strand breaks were measured in human K562 cells in SCGE assays. Experiments which were carried out with B(a)P and 7,12-diemethylbenz(a)anthracene as model compounds indicate that in both systems positive results are obtained. In conclusion, our data show that tests with human Hep G2 cells as well as sandwich cultures with primary human liver cells are useful for the detection of environmental carcinogens and probably reflect their effects in humans better than conventional in vitro assays with metabolically incompetent cells which are currently used in most mutagenicity studies.
Use Of Metabolically Competent Human Hepatoma Cells of The Detection Of Mutagens And Antimutagens.
(1998-04) Knasmuller, Siegfried; Parzefall, Wolfram; Sanyal, Ratna; Ecker, Sonja; Schwab, Christina; Uhl, Maria; Mersch-Sundermann, Volker; Williamson, Gary; Hietsch, Gerhard; Langer, Theo; Darroudi, Firouz; Natarajan, Adayapalam T
The human hepatoma cell line (Hep G2) has retained the activities of various phase I and phase II enzymes which play a crucial role in the activation/detoxification of genotoxic procarcinogens and reflects the metabolism of such compounds in vivo better than experimental models with metabolically incompetent cells and exogenous activation mixtures. In recent years, methodologies have been developed which enable the detection of genotoxic effects in Hep G2 cells. Appropriate endpoints are the induction of 6-TGr mutants, of micronuclei and of comets (single cell electrophoresis assays). It has been demonstrated that various classes of environmental carcinogens, such as nitrosamines, aflatoxins, aromatic and heterocyclic amines and polycyclic aromatic hydrocarbons can be detected in genotoxicity assays with Hep G2 cells. Furthermore, it has been shown that these assays can distinguish between structurally related carcinogens and non-carcinogens, and positive results have been obtained with rodent carcinogens (such as safrol and hexamethylphosphoramide) which give false negative results in conventional in vitro assays with rat liver homogenates. Hep G2 cells have also been used in antimutagenicity studies and can identify mechanisms not detected in conventional in vitro systems such as induction of detoxifying enzymes, inactivation of endogenously formed DNA- reactive metabolites and intracellular inhibition of activating enzymes.
Polymorphism At GSTM1 And CYP2D6 Gene Loci And Modulation Of Oral Cancer Risk.
(1998-04) Bhisey, Rajani; Buch, Shama; Kotekar, Aparna; Fakih, Abdul
In this study, the link between polymorphisms at GSTMI and CYP2D6 gene loci and individual susceptibility to oral cancer was analysed using blood samples from 150 patients with cancer of the buccal mucosa and 200 controls matched for age and sex. DNA extracted from white blood cells was subjected to polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) analysis for detection of GSTM1 and CYP2D6 genotypes. The percentage of GSTM1 null individuals was significantly higher in oral cancer patients than in controls (42% vs 23%; p<0.001, odds ratio 2.11, 95% C.I 1.34 - 3.33). Comparative analysis of the CYP2D6 intron 3 - exon 4 polymorphism revealed that the frequencies of the homozygous normal (+/+), heterozygous (+/-), and homozygous mutant (-/-) genotypes were similar in oral cancer patients and controls. However, in combinational analysis the frequency of the GSTM1 null and CYP2D6 +/+ genotype was found to be higher in the cancer patients than in controls (38% vs 16%). The findings shown that individuals with the GSTM1 null allele and those with the combined GSTM1 null and CYP2D6 +/+ genotype are at a higher risk of developing tobacco related oral cancer.

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