Ataxia telangiectasia: Family management

Ataxia telangiectasia (AT) is a rare autosomal recessive disease resulting in progressive degeneration of multiple systems in the body. Both A-T homozygote and heterozygote are at increased risk of developing malignancy. We report a family in which three generations were affected by this disorder. Our index case is a 12-year-old female child, born of second degree consanguineous marriage diagnosed to have ataxia telangiectasia at the age of four years, now presented with fever and neck swelling of one month duration. Family history suggestive of ataxia telangiectasia in maternal uncle and younger sibling was present. History of premature coronary artery disease and death in paternal grandfather was present. On evaluation, child was diagnosed to have Alk negative anaplastic large T cell lymphoma. Management included genetic counseling, examination of all the family members, identification of A-T homozygote and providing appropriate care, regular surveillance of the heterozygote for malignancy.     

A protein-nucleic acid complex in teliospores of Ustilago maydis

The ribonucleic acids extracted from nongerminated teliospores of Ustilago maydis showed the spectrum similar to histone-DNA complex with a high 230/260 mμ ratio. The chemical analyses of the RNA preparations revealed that the spectral abnormality was due to the complexing of RNA with a protein. On the other hand RNA prepared from the isolated ribosomes of spores exhibited a normal spectrum and low protein content relative to RNA fraction. These observations show that an unusual protein is present in germinated spores which complexes with RNA and disappears as germination occurs.     

DNA repair genes hOGG1, XRCC1 and ERCC2 polymorphisms and their molecular mapping in breast cancer patients from India

Molecular Biology Reports - Identification of modifier genes predisposing to breast cancer (BC) phenotype remains a significant challenge and varies with ethnicity. The genetic variability observed...