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Polycystic ovary syndrome (PCOS) is an endocrine/metabolic disease because of the elevated levels of androgen which could lead to anovulation. The angiotensin-converting-enzyme (ACE) is a zinc metallopeptidase that converts angiotensin I to angiotensin II. ACE is bound to the plasma membrane and expressed in many tissues such as ovarian tissues. The renin-angiotensin system (RAS help the production of angiotensin, angiotensinogen, and ACE. Angiotensin II plays a major role in ovulation, steroidogenesis, follicular atresia and hyperandrogenic syndromes such as PCOS. This study aimed to determine the association of ACE polymorphism in PCOS to analyze the distribution allele frequency of insertion or deletion variation in PCOS patients of the South Indian cohort. A total of 430 women with PCOS confirmed based on the Rotterdam criteria and 300 age and sex-matched control samples were studied. PCR technique was used to determine the frequency of polymorphism in the ACE gene. The genotyping distribution of II, DD and ID in PCOS was 4.56%, 30.23%, and 65.11%, respectively, whereas the control group showed 30%, 20%, and 50% for II, DD and ID, respectively. The deletion (D) allele frequency was 62.79% and insertion (I) allele was 37.2 % in PCOS patients, whereas in the control group, it was 45% and 55% for D and I alleles, respectively. This study concludes that the distribution of deletion (D) allele frequency of ACE could be considered as a genetic marker for PCOS in the South Indian cohort.

Background: Polycystic ovary syndrome (PCOS) is a common endocrine disorder occurring in premenopausal women, with a prevalence rate of 5%–7%. It has been observed in multiple number of studies the coexistence between diabetes mellitus 2 and obesity with this endocrinopathic disorder. Transcription factor 7-like 2 (TCF7L2) gene is shown to be associated with insulin secretion. Aim: To screen whether the gene variant of TCF7L2 (formerly TCF4) gene is significantly associated and has susceptibilities with type 2 diabetes in PCOS. This study is essential to uncover diabetogenic association of the TCF7L2 gene variants with PCOS. Design: This was a hospital-based study. Methods: In this work, blood samples from 43 PCOS patients with age and sex similar to 43 control samples were collected, followed by isolation of DNA. Further genotyping of the TCF7L2 gene was carried out by performing polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Statistical Analysis: Genotype frequencies of the TCF7L2 rs7903146 gene were checked by Hardy–Weinberg equilibrium of genotype in both PCOS and the control group, and also, the frequencies of the genotype were performed accordingly. Results: There was no significant allelic variation observed among the patient and the control samples. From the patient details, it was observed that women between the age group of 21 and 25 years are susceptible to PCOS. Conclusion: From the PCR-RFLP analysis, it can be stated that there are no expected gene polymorphisms seen in this study, unlike the study carried out on the Chinese population where they observed genotype variations CC, CT, and TT. From this study, we can conclude that TCF7L2 rs7903146 gene cannot be considered as the candidate gene for the occurrence of PCOS.

Background Epilepsy is one of the most prevalent neurological disorders. Around 50 million people worldwide suffer from Epilepsy, 85% of them are from the developing countries. It is a most significant as well as common brain disorder worldwide. Sodium channel alpha 1 subunit gene (SCN1A) is most commonly mutated the gene in different forms of epilepsy. Objective To screen the genomic damage and SCN1A gene mutation in patients with epilepsy. Methods To screen the genetic instability of SCN1A gene using Buccal micronucleus cytome (BMCyt) assay and molecular analysis with Single Strand Conformation Polymorphism (SSCP) technique was used to observe the variations in SCN1A gene. Results We found significant differences in buccal cells of patients than controls. So, we can interpret that BMCyt assay would be a minimally invasive biomarker to detect DNA damage and mutation screening in the SCN1A gene with SSCP technique showed no variation in epileptic patients. Conclusion These data confirmed that there is certainly DNA damage and no mutations in the SCN1A gene; hence the genetic instability has occurred in epileptic patients.

Parents having Down syndrome children may not be aware of the reason for their child’s present condition and knowledge to hold the situation hence, in such conditions genetic counseling is important to guide the parents about caring for the child with Down syndrome. So the main aim of the researchers’ study is to understand the impact of Genetic counseling replica on the parents having Down syndrome in a language they understand better and also to understand the parent’s experience of Genetic counseling and knowledge of Down syndrome. The Genetic counseling session was carried out in two phases attended by eight parents having Down syndrome children and after Genetic counseling session parents were able to understand possible condition that may be the reason for their child’s current situation. The researchers’ study concluded that Genetic counseling should be the best replica to help the parents having children with Down syndrome.

Polycystic Ovarian syndrome (PCOS) is a major cause of infertility in females of reproducing age and is typified by oligo-anovulation, hyperandrogenism, hirsutism and polycystic ovaries. FSHR gene located on chromosome 2 p21 is responsible for the normal follicular development and any deletion or mutation in the gene affects the interaction of FSH with its receptor. Thus, it becomes the candidate gene for PCOS study. Inactivating mutation in FSHR gene limits the receptor's function by creating a complete block, changing the receptor-ligand complex or the basic hormone signal transduction.To screen the inactivating mutations in Exon 6 and Exon 10E of FSHR gene in women diagnosed with PCOS.PCR-RFLP analysis indicated that there were no inactivating mutations found in Exon 6 and Exon 10E. Variations in hormone levels were seen amongst the PCOS patients. There were no inactivating mutations found in FSHR gene of the women diagnosed with PCOS according to the Rotterdam criteria in Vellore population.