RESUMEN
Background: Periodontitis is a common multifactorial oral disease and a major cause of tooth loss among adults. The present study was aimed to investigate the role of calcitonin receptor (CTR) gene polymorphism in the causation of periodontitis. Materials and Methods: A total of 112 subjects comprising of 62 patients and 50 controls were enrolled and recruited from various dental clinics in and around Hyderabad, India. Two milliliter of blood sample was collected from all the subjects. Following extraction of DNA, genotyping for CTR 1340 C>T was performed by PCR-RFLP. Results: The frequency of CC, CT and TT genotypes in patients was 45%, 42% and 13% while in controls it was 56%, 32% and 12%. The frequency of C and T allele was 0.66 and 0.34 in patients whereas it was 0.72 and 0.28 in controls. The genotype and allele frequencies did not vary between the groups. The genotype frequencies among male and female sub-types revealed a statistically significant difference in female subgroup. The CT genotype and T allele revealed an OR value of 5.62 and 2.40 respectively. Conclusion: Our study revealed a significant association of this SNP with periodontitis only in females. It also highlights the predisposing role of CT genotype and T allele in the causation of periodontitis. However, replicative studies on the influence of this polymorphism in different ethnic groups may identify the potentiality of this SNP towards periodontitis.
RESUMEN
Background: Turner's syndrome is the most common chromosomal abnormality in females, affecting 1 in 2,500 live female births. It is a result of absence of an X chromosome or the presence of a structurally abnormal X chromosome. Its most consistent clinical features are short stature and ovarian failure. Aim: The aim of the study was to report a rare case of mosaic triple X syndrome in a female with primary amenorrhea. Materials and Methods: The chromosomal analysis using GTG banding was carried out, which revealed a mosaicism with 45,XO/47,XXX chromosomal constitution. Fluorescent in situ hybridization was also carried out to further confirm the observation made in the study. Conclusion: The physical features presented by the female could be due to the 45,XO/47,XXX mosaicism and the karyotype analysis was consistent with the diagnosis and clinical symptoms. Triple X mosaicism was confirmed with conventional and molecular cytogenetic analysis.
RESUMEN
Klinefelter’s syndrome is a sex chromosomal aneuploidy caused by an addition of X chromosome in males (47,XXY).Variants of this syndrome with X and Y polygamy are of rare occurrence. Here we describe a rare case of 48, XXXY Klinefelter’s variant from South India with a reported incidence of 1 per 17,000 to 1 per 50,000 male births. The presence of an extra X chromosome/s in these individuals has a great impact on the physical and cognitive functions, which could be attributed to gene dosage effects and genes involved in neurogenic development.