Indian Journal of Genetics and Molecular Research

 Fibrodysplasia ossificans progressiva (FOP) is a rare genetic condition of abnormal ossifications of body tissues. It is an autosomal dominantly inherited condition or can be sporadic. It is a severe musculoskeletal disease characterized by extensive new bone formation within soft connective tissues and unique skeletal malformations of the big toes which represent a birth hallmark for the disease. Most of the isolated classic cases of FOP showed heterozygous mutation in the ACVR1 gene on chromosome 2q23 that encodes a bone morphogenetic protein BMP (ALK2).

 Tracheal agenesis is a very rare congenital airway anomaly of respiratory system with incidence of 1 in 50,000 newborns. The condition may be diagnosed antenatal if associated with Tracheo-esophageal fistula (TEF) presenting as Congenital High Airway Obstruction Syndrome (CHAOS). It may pose a great challenge to the attending neonatologist both in diagnosis and in establishing the airway soon after birth and associated with high mortality even with best possible facilities. Tracheal agenesis is difficult to detect prenatally. We report a case of tracheal atresia Faro type E associated with other congenital anomalies.

Keywords: DNA Fingerprinting; Short Tandem Repeat (STR); hemophilia; Huntington’s disease. 

 The etiology of osteoarthritis (OA) is complex, with genetic, developmental, biochemical, and biomechanical factors contributing to the disease process. Chondrocytes in articular cartilage must express appropriate genes to achieve tissue homeostasis, and this is altered in OA given the role of microRNAs in mediating the translation of target mRNAs into proteins, the identification of differentially expressed microRNAs in OA tissue and the crucial contribution that microRNAs play in the progression of OA, microRNAs may have important diagnostic and therapeutic potential, and provide a novel means of treating OA.

Keyword: Angioedema; Morbidity; Nascent protein; Bradykinin. 

Keywords: Tuberculosis; Urban; Semi Urban; Rural; Age; DOTS Program. 

 Impairment of spermatogenesis and defective sperm function is the most prevalent cause of male infertility. Recent reports indicate that increasing male infertility could be due to genomic abnormalities. Therefore the present study was aimed to evaluate sperm DNA fragmentation in oligospermic infertile as well as fertile men and to study correlation of sperm DNA fragmentation with sperm parameters. The study is prospective, comprises 30 oligospermic infertile men and 30 fertile men. Sperm DNA integrity in terms of DNA fragmentation Index (DFI) was assessed by flow cytometer. Sperm DNA fragmentation was found to be significantly increased in oligospermic infertile men as compared to fertile men.  It was negatively correlated with sperm count and sperm motility. Therefore assessment of sperm DNA damage can be used to identify cause of infertility in patients with poor semen quality. This needs to be considered while treating patients with sperm quality anomalies for better outcomes of infertile patients.

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