Indian Journal of Genetics and Molecular Research

immune system involved in defending against all the foreign pathogens through complement fragments that participate in opsonization, chemotaxis, and activation of leukocytes and through cytolysis by C5b- 9 membrane attack complex. The complement (C) system has been implicated as a factor in the causation or propagation of tissue injury in central and peripheral nervous system disorders. Complement factors play a predominant role in nerve injury, inflammation and repair, thus playing part in neurodegeneration, neuroinflammation and neuroprotection. 

Keywords: Immunology; Neuroimmunology; Immunogenetics; Genetic neurology; Complement system.

The aim of this letter is directed to exploring the underlying evidence for the role of genetic factors in development of a common microvascular complication of diabetes mellitus (DM), the diabetic peripheral neuropathy (DPN). Genetic factors played a pathogenetic, predisposing role and also a protective therapeutic role in development and amelioration of DPN respectively. 

Keywords: Genetic endocrinology; Molecular metabolism; Diabetic neuropathy; Neurobiochemical markers.

Branchio-Otic syndrome is a rare autosomal dominant disorder characterized by syndromic association of branchial cysts or fistulae along with external, middle & inner ear malformations.

Keywords: Brachio-Otic Syndrome; BOS1; BOS2; BOS3; EYA1; Hearing loss; SIX1.

Wilson’s disease or hepatolenticular degeneration is an autosomal recessive genetic disorder in which copper accumulates in tissues; manifesting as neurological or psychiatric symptoms and liver disease. This has varied range of manifestations like asymptomatic hepatomegaly, subacute or chronic hepatitis, acute hepatic failure etc. Because of this there is delay in diagnosis and initiation of treatment are common, even in patients with positive family history. There is no consensus regarding therapeutic protocols since the use of penicillamine, once a ‘gold standard’ for treatment, has been debated by experts. Mortality and morbidity of this potentially treatable disease and nonavailability of medications to the poor patients remain a major area of concern. 

Keywords: Wilson’s disease; Acute hepatic failure; K.F. ring; Coomb negative hemolytic anaemia.

Monoclonal anti-CD66e antibodies developed by standard methods belonging to IgG 2 subclass were applied to formalin fixed paraffin embedded tissue of oral squamous cell carcinomas, reactivity correlated with degree of differentiation , both in intensity and percentage of cells stained.

Keywords: Oral squamous cell carcinoma; Monoclonal antibodies; Immunohistochemistry; Peroxidase anti peroxidase.

46,XY females are referred with different terms and The Consensus Statement on Management of Intersex Disorders (2006) presented a widely accepted system of nomenclature and proposed the umbrella term of Disorders of Sex Development (DSDs). The rationale of the present study, is to correlate the phenotype in cytogenetically confirmed 46,XY females specifically with the molecular genetic basis of SRY and AR genes and also with the karyotypes and the age at referral. Material and Methods: Gather data from division of Human Genetics, St. John’s Medical College, Bangalore. The data includes both cytogenetic and molecular genetics analysis of 46,XY females. Results: The classified features of the probands under 12 groups were further subdivided and then, percentage occurrence of the features was calculated as per the presence or absence of SRY gene or the mutation in AR gene versus the karyotype and age at referral. Among the total features, probands for the AR gene analysis have manifested 116 (51.3%) and in them, the probands with AR- manifested 72 (62%). The absence of the uterus was the selective feature for the AR- or AR + status in 8/8 and 4/5 probands and also between AR and SRY. On the contrary, the sparse axillary hair was the feature between SRYand SRY+ status. Probands with 46,XY karyotype have manifested 193 features (85.4%) out of which 64 were seen in AR- probands (33.3%). In AR- and with 46,XY karyotype, the absence of the uterus was noticed in the 7 probands. The features that were common in all the 4 SRY- and 5 SRY+ with 46,XY karyotype were the smooth skin, female voice, primary amenorrhea and female genitalia; but in the 4 SRY- they were the sparse axillary and pubic hair. Discussion: In the present study, it could be interpreted that with the help of genetic counseling and appropriate management and therapy, the probands with SRY+ and AR+ could be reared as male and female individuals. It is seen that the probands have manifested age related features. It is stated that, as per the presence of the uterus and other mullerian derivatives, the phenotype of adult 46,XY females could be grouped into 3 major categories. Conclusion: 46,XY females comprise a heterogenous group, which differ not only in their diagnostic category and anatomy but also in their journey through life to adult services. Medical and surgical care required.

 Keywords: XY females; Gonadal dysgenesis; Androgen insensitivity .