Indian Journal of Genetics and Molecular Research

It is well known that hyperglycemia is the predominant manifestation in diabetes mellitus, and the most common complication of DM is diabetic peripheral neuropathy (DPN). The aim of this short communication was to provide an insightful overview of the molecular basis of DPN by assimilating evidence on the role of oxidative stress. Existing evidence indicated that oxidative stress might be a final common pathway in the development of diabetic neuropathy, and that antioxidants could prevent or reverse hyperglycemia-induced nerve dysfunction. The effects of antioxidants were hypothesized to be mediated by correction of nutritive blood flow, and endoneurial oxidative state; and antioxidant drugs such as alpha-lipoic acid and vitamin E were therapeutically indicated.

Keywords: Molecular endocrinology; Molecular neurology; Diabetic neuropathy; Oxidative stress.

Oculo-auriculo-vertebral spectrum (OAVS) refers to three rare disorders that many clinicians believe to be intimately related to one another and which represent the range of severity of the same disorder. These disorders are apparent at birth (congenital). As the name suggests, they involve malformations of the eyes, ears and spine. Oculo-auriculo-vertebral disorder (OAVD) represents the mildest form of the disorder, while Goldenhar syndrome presents frequently as the most severe form. Hemifacial microsomia appears to be an intermediate form. The disorder is characterized by a wide spectrum of symptoms and physical features that may vary greatly in range and severity from case to case. However, such abnormalities tend to involve the cheekbones, jaw, mouth, ears, eyes, and/or bones of the spinal column (vertebrae). Although, in most cases (about 60%), such malformations affect one side of the body (unilateral), approximately 10 to 33 percent of affected individuals have such malformations on both sides of the body (bilateral), with one side typically more affected than the other (asymmetry). In the majority of such cases, the right side is more severely affected than the left. In most cases OAVS appears to occur randomly, with no apparent cause (sporadic). However, in some cases, family histories suggest autosomal dominant or recessive inheritance. In addition, some researchers suggest that the disorder may be caused by the interaction of many genes, possibly in combination with environmental factors (multifactorial inheritance). Our case is part of this spectrum having facial asymmetry (microsomia) with vertebral anomalies.

Keywords: Oculo-auriculo-vertebral spectrum (OAVS); Goldenhar syndrome; Hemifacial microsomia; Preauricular Tags; Tessier facial cleft; Trachiomalacia; Hypospadias with chordee. 

The basic mechanism of ageing refers to the instability in the organization and expression of the genetic material, which induces DNA strand breaks, chromosomal loss and nuclear anomalies. Subsequent loss of DNA repair mechanism with age also causes irreversible damage to the genetic material. The present study is an attempt to understand the effect of ageing on the incidences of micronuclei in the exfoliated buccal epithelial cells of healthy individuals of Haryana using micronucleus assay. The study was conducted on 150 healthy individuals of four age groups with mean ages of 18.45±0.31, 28.25±0.87, 46.42±1.00 and 66.37±0.79 years respectively. The mean frequencies of MN, BN, BE, KL and KH were found to be significantly different in all the age groups (p<0.05). There was a significantly positive correlation observed between age and nuclear anomalies (p<0.01) demonstrating increase in the chromosomal damage with increasing age.

Keywords: Ageing; DNA damage; Chromosome; Micronucleus test.

The present investigation was planned on four endogamous groups of Haryana viz. Banjara, Jatav, Nai and Rajput, and the distribution of serological traits, ABO and Rh (D) blood groups was determined. In the ABO blood group system the frequency of A allele ranged from 0.102-0.285, that of B allele ranged from 0.201-0.348 and of O allele from 0.370-0.654. In Rh (D) blood group system the frequency of d allele ranged from 0.000-0.583 while the frequency of D allele varied from 0.417-1.000. The frequency range of ABO alleles conformed to the range of other populations of North West India studied earlier whereas that of d allele deviated from the upper maxima.

Keywords: ABO; Allele frequency; Endogamous groups; Rh (D) blood group.