(RSAs) revealed the presence of a supernumerary, metacentric, bisatellited microchromosome marker in the male partner. His karyotype was 47,XY,+mar. Molecular analysis revealed the marker to be an idic 14 or 22 (q11-12). We herein discuss two aspects with respect to the presence of the marker: firstly, the karyotype-phenotype relationship in the carrier as well as the possibility of the marker causing abnormality in the next generation and, secondly, the possible role of the marker in the causation of RSAs.

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Cytogenetic analysis of 70 primary amenorrhea cases revealed normal chromosomal constitution (46, XX-71.43%) in 50 and abnormal karyotype in 20 (28.57%) cases examined. Among the abnormal cases, there were 4 with 45, X (5.71%), 11 (15.71) with 45, X / 46, XX; 1 each with mosaicism of 45, X / 47, XXX and 45, XX/47, XXX and 47, XXX (1.43%) constitution. The remaining 2 cases with 46, XY constitution had testicular feminization syndrome.

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Hyperinsulinemia has been reported to be associated with polycystic ovaries. The prevalence of hyperinsulinemia in patients with Polycystic Ovary Syndrome (PCOS) and their female members was studied. The results have indicated that hyperinsulinemia could be a factor amplifying leutinizing hormone (LH) dependent androgen secretion in hyperadrogenised patients with PCOS and their female family members.

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Duchenne Muscular Dystrophy (DMD) gene analysis for 25 unrelated patients from Western India using PCR screening for 14 exons and the promoter region was carried out. Intragenic deletions were detected in 18 patients and most of them were located at the 3' hot spot region of the gene indicating that this part of the gene is more deletion prone in the Indian population from Western India as well. The frequency of deletions observed in the present study is 72%.

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Pre-eclampsia is a hypertensive disorder of pregnancy and has been reported to be associated with altered vitamin D levels. GC being a vitamin D binding protein, may be playing a functional role in the pathophysiology of the disease. The present investigation conducted on 100 pre-eclamptic and hypertensive controls with a corresponding decrease in GC 1-1 phenotype as compared to normotensive controls. There was no difference in the frequency of GC 2-2 phenotype between eclamptic women and controls. A similar trent was observed in moderate and severe cases of pre-eclampsia and in multigravid women with recurrence of pre-eclampsia. Relative risk estimates revealed an increased risk for moderate and severe types of pre-eclampsia when their phenotypes were of GC 2-1. The increase in heterozygote frequency of GC in pre-eclampsia and hypertensive controls as compared to normotensive controls, indicates the risk of GC 2-1 phenotype which could be due to a direct physiological effect against the disease through increased physiological versatility where the two alleles of GC may vary functionally. It may be possible that the binding capacity of GC alleles 1 and 2 with vitamin D may be varying on similar lines as haptoglobin with haemoglobin. The altered levels of vitamin D as reported by many authors and the increased risk of GC 2-1 phenotype observed in the present study indicate a possibility for a causal relationship of this phenotype with the disease probably With a functional role.

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C-band heteromorphism for chromosomes #1, #9 and #16 was studied in peripheral blood lymphocytes of 18 Down syndrome patients and 30 control individuals. Lengths of C-band segments of chromosomes #1, #9 and #16 was significantly greater in DS patients as compared to the control individuals (p <0.001, p < 0.02 and p <0.01, respectively). A significant difference in the frequency of size (p < 0.001) and localization (p < 0.01) variants were noted as compared to control individuals. Thus, in addition to extra chromosome #21, results of the present study suggest that C-band heteromorphism may be related to a high risk of cancer among DS patients.

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Forty eight random families from the population of Andhra Pradesh were selected for the analysis of digital dermatoglyphic patterns and patterns intensity index (PII). The loops were found to be more frequent in the present sample followed by whorls and arches. Sex difference was not evident in the frequency distribution of digital patterns. There was no significant bilateral assymetry in the distribution of digital patterns between the right and left hands of the individuals. The dermatoglyphic patterns showed a specific trend in their distribution on individual fingers, i.e., whorls occurred frequently on finger IV, ulnar loops on finger V, radial loops on finger II and arches on finger II. The pattern intensity index as calculated from the different digital patterns exhibited high heritability values. The correlation coefficients of pattern intensity index between various familial relationships were found to be significant indicating the involvement of genetic factors, mostly autosomal. The partitioning of total phenotypic variance into various components of variance revealed the action of polygenes with more of additive effect, dominance deviation being negligible. This was confirmed by analysis of variance (ANOVA). In general, our study indicated the involvement of polygenes with additive effect and also of environmental components which might be intra-uterine in origin.

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To find out the clustering of HBV carriers within a family, 50 HBsAg carriers were studied. The distribution of HBsAg was found to be high (33%) among the offspring of HBsAg negative father and positive mother when compared to positive father and negative mother (16%) or where both the parents were HBsAg negative (31%0. The frequency of HBV DNA was also found to be high among the offspring of HBV DNA negative father and HBV DNA positive mother (25%). Male infection leading to a clustering of HBsAg carrier families.

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Incidence of constitutive C-band heteromorphism (CBH) is reported to be higher in patients with malignancy by some studies, while in others no difference is reported between control and malignant conditions. We have studied incidence of CBH in pediatric cancer patients in terms of > 25% size difference between the homologues of chromosome #1, #9 and #16 and compared it with (i) age-matched controls, (ii) controls with minimum 60 years of age and (iii) parents/siblings of pediatric cancer patients and overall prevalence of CBH was comparable between patients and three groups of control subjects. Statistically significant difference was observed between the total lengths of C-band of chromosome #1 for pediatric cancer patients and first degree relatives group (p < 0.01). 17 families of pediatric cancer patients were studied for the pattern of CBH. In three patients, CBH analysis, more number of cancer families and normal pedigrees will be more informative. The problem still remains unresolved and should be analyzed qualitatively using techniques of molecular cytogenetics.

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We have studied variability of the quantitative content of chromosomal Q-heterochromatin regious (Q-HRs) in Indian of Northern India. As to the number of chromosomal Q-HRs in the genome, the samples of Indians examined occupy an intermediate place between aboriginals of subequatorial Africa and steppe zones of Central Asia and Northern China. We discuss the question of the question of the existence of non-fortuitous tendencies towards decreases in the number of chromosomal Q-HRs in the genome of human populations of Eurasia and Africa as their site of permanent residence moves away from the equator to the North.

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