Indian population is well known for its genetic diversity. Among the numerous endogamous communities which are restricted very much by custom, marriage and occupation, we have collected a total 157 individuals from1996-1999 comprising of Brahmins, Kunbis, Chandrasenia Kayastha Prabu (CKP), and Mahars caste groups. We present here the HLA antigen distribution of these endogamous caste groups and compare their distribution of HLA antigens with other caste groups reported from other parts of India. The HLA class I antigens were identified by using the standard complement mediated NIH microlymphocytotoxicity assay. The phenotype frequencies of HLA A2, B7, B27, B40, B52 in Kunbis, B35 in Brahmins, A9, A19, A11, B37, B16 in CKP and HLA A1, A2, A9, A19, B7, B35, B40, B53 in Mahars were found to be significantly increased. The phenotypic frequencies of HLA A3, B13, B17, B37 in Kunbis, A10, B8, B13, B18, B21, B37, B52, B57, B60 in Brahmins, A10, B8, B14, B21. B55, B53 in CKP and HLA A10, B8, 818, B22 in Mahars were significantly decreased among the HLA antigens tested. Two Locus haplotype analyses revealed that haplotype A10-B8 was common in Brahmins and Mahars while haplotype A19-B12 was common in Brahmins and CKP. Haplotypes A9-B15 and A3-B5 were identified only among the Brahmins. The other haplotypes were in concordance with the Indian haplotypes which have been commonly reported. The genetic distance analysis showed that the Brahmin community of Mumbai differs in their origin, migration and settlement, although they adopted Hinduism since ancient times. The observed antigen frequencies haplotype frequencies and linkage disequilibrium among the caste groups suggest the influence of genetic drift caused by selection, geography and culture. Further, the study reveals that the caste groups of India cannot be considered as a single panmictic population with reference to genetic characteristics which may have a clinical relevance in unrelated donor selection for allogenic Bone marrow transplantation in India.

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A family with the segregation of retinitis pigmentosum (RP) in combination with enamel hypoplasia (amelogenesis imperfecta - AI) is recorded. Family information collected over three generations revealed expression of the condition in two of the cousins born to half sibs. Parents of both the patients are cousins and are phenotypically normal. None of the sibs and other relatives of the patients are affected with any ophthalmic condition or dental anomalies. Ophthalmic evaluation of the patients revealed retinitis pigmentosa with nystagmus and optic atrophy and dental examination showed the presence of AI with hypoplastic enamel,' severe attrition of incisors and molars with narrowing of root canal and pulp chambers. Retinitis pigmentosum is a highly heterogeneous condition with 11 genes identified for an autosomal dominant, 13 for autosomal recessive and 5 for X-linked inheritance. Amelogenesis imperfecta is also a genetically heterogeneous condition showing all the three types of segregation. To the best of our knowledge co-segregation of RP with AI has not been reported. The family reported here may be considered as a new syndrome caused by a rare autosomal recessive gene with pleitropic effect affecting the retina and as well as the normal dentition. Alternatively it could also represent a rare coincidence of the two conditions.

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We describe.a 46,XY female with complete gonadal dysgenesis, who developed an endodermal sinus tumor in her peritoneal cavity at 21 years of age. Histological investigations for gonadal dysgenesis revealed a complete absence of testicular development. Molecular studies indicated that the sex determining gene, SRY, was not mutated and that the DSS locus at Xp21.3 was present as a single copy. The possible molecular mechanisms of sex reversal and endodemal sinus tumor in this patient are discussed.

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Leukemia are the family of hematological malignancies of bone marrow resulting in uncontrolled proliferation of white blood cells. We have analyzed the MDA levels in 108 leukaemic patients. In the present study, the mean of the plasma MDA levels in leukaemic patients were found to be significantly elevated (572.41+11.79) as compared to that of the normal controls (375.84+5.48) indicating the possible role of invivo peroxidation of membrane lipids in the etiology of leukaemias. Sexwise comparision of the MDA levels in the leukaemic groups showed an elevated levels of lipid peroxidatrion byproducts among the affected males (588.23+14.49) as compared to that of the femeles (541.61+ 19.57). With respect to the age, the MDA levels were seen to be progressively increasing with advancing age. The highest levels of MDA were found in the age group of 30-40 years in an the types of leukaemia. In general the treated group showed comparatively low levels of MDA (543.13+13.46) to that of the untreated group (631.21+20.05) indicating the effect of chemotherapy on MDA levels. With respect to stage, the M5 stage among the AML type (619.67+28.22), L3 among the ALL type (769.00) and blast crisis among the CML group (619.67+112.89) were exhibiting elevated levels of MDA.

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Though DNA testing gives precise diagnosis, molecular heterogeneity of disease makes testing an elaborate effort in Duchenne Muscular Dystrophy (DMD) in spite of the fact that 60°% of the cases are caused by deletions. The molecular diagnosis of carriers is elaborate needing quantitation of amplifed exonic products. Use of polymorphic markers for other mutations are also involved. We had reported in a large pedigree of DMD with one exonic deletion, the status of calpain by ELISA, CPK and deletion assessed by quantitative PCR (QPCR) in mothers and female siblings. The results pointed to the fact that calpain test is positive in true carriers (showing gene deletion). Status of catpain was assessed in many unrelated female members of DMD families carrying other exonic deletions, which was positive to calpain changes in true carriers.

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An 18 year old female with multiple ocular disorders showed more or less cardinal features similar to that of an autosomal dominantly inherited Marfan Syndrome. Related features with variable symptoms were seen in her sibs. Major and minor manifestations of MFS like cardio-vascular, respiratory problems, spine deformities, arachnodactyly were not observed. Pedigree analysis showed high incidence of consanguinity.

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Epilepsy is a neurological disorder characterized by recurring seizures. A seizure is a paroxysmal and transitory disturbance of brain function that develops suddenly and terminates spontaneously. We studied 247 Idiopathic Generalised Epilepsy (IGE) cases referred to the Neurology Department of Nizam 's Institute of Medical Sciences, Hyderabad for genetic basis and also associations with certain genetic, biochemical and epidemiological factors to understand the mechanism of the onset and progression of the disease. Of the 247 cases studied 42.91% showed positive family history for IGE and also genetic heterogeneity with the possibility of segregation of the condition following autosomal dominant, recessive and sex linked inheritance. We made an attempt to estimate the segregation frequencies to determine the mode of inheritance in the families ascertained.

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Apolipoprotein E is a major constituent of chylomicrons and HDL fractions of the normal blood plasma involved in lipid transfer systems. The three common alleles apoE2, apoE3 and apoE4 with six possible phenotypes have been identified at this locus in all the populations of the world studied so far, with apoE3 being the most common. The present study employed PCR restriction isotyping techniques to estimate allele frequency distribution amongst Ramgharias an artisan caste group of Punjab in North India. The methodology was developed to visualise the isotypes on PAGE using silver staining. The major genotypes observed were E2/3, E3/3 and E3/4 with allele frequencies APO E2=0.107, APOE3=0.714 AND APO E4=0.179.

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The frequency distribution of digital dermatoglyphic patterns was studied in 50 muslim families from Lakshmipur district from Assam. The study revealed asymmetry in the distribution of various patterns on individual digits though bimannual differences were not present. The mean pattern intensify index was found to be 13.54 + 3.76 corresponding to the presence of more number of loops and whorls in the data. Heritability, as calculated from mid parent child regression was found to be 82% indicating the presence of stronger genetic component in the formation of dermatoglyphic patterns. There was significant inter-familial variance suggesting the presence of genetic and environmental factors. The higher values of intra-familial variance also indicate influence of polygenes with additive effects on dermatoglyphic patterns.

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Chromosomal analysis was performed in a series of 30 women with repeated spontaneous abortions and their husbands. Out of the 30 women, one woman of age 28 years with history of spontaneous abortions was detected to be a chromosomal mosaic 46,XX/47,XXX and with corresponding sex chromatin positive picture C +ve / ++ve. She had normal phenotype and spontaneous abortions that occurred in the second/third months of pregnancy. Her husband was normal and has normal karyotype (46,XY).

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