MATERIALS AND METHODS: Seventy two probands that were referred to division of Human Genetics, St.John's Medical College, Bangalore with variable complaints and phenotypic features were diagnosed with informed consent as Klinefelter syndrome with a confirmed karyotype. The Karyotype was prepared by peripheral lymphocyte culture and GTG banding method. The parental origin was studied in 9 families of Klinefelter probands with standard protocol for GENE SCAN using X-chromosome specific Short Tandem Repeat markers. The outcome was analyzed to determine the parental origin by GENE MAPPER.
STATISTICAL ANALYSIS: STATISTICAL ANALYSIS was conducted to ascertain the significance of parental origin of supernumerary X with the phenotypic profile with confirmed karyotype.
RESULTS: Seven of nine probands had 47, XXY karyotype and 2 were mosaic with 47,XXY/46,XY karyotype. Five probands had their supernumerary X from maternal side and four were paternally derived. Sixteen features as framed proforma were tabulated against the originated X in Klinefelter probands. 55.56% of Klinefelter stigmata were seen in prob and who had maternally derived X and the rest were with paternal X.
CONCLUSION: The findings of the present study points on parent-of-origin effect on clinical profile and indicate that the imprinted X chromosome genes show differential effect general and systemic traits.
AIM: To evaluate the feasibility of a Dot-EIA method for Ig-class specific salivary antibody detection for diagnosis of typhoid fever.
MATERIALS AND METHODS: Paired saliva and serum samples were collected in the year 2010 from patients and normal volunteers in Hospital Universiti Sains Malaysia, Kelantan, Malaysia, which is endemic for typhoid fever. A total of 11 culture-confirmed typhoid fever patients, 43 non-typhoid fever patients and 53 normal human control subjects were evaluated for antibodies against a 50 kDa antigen specific for Salmonella Typhi using Dot-EIA.
RESULTS: Ig class-specific screening of the test samples showed a higher sensitivity for IgA (90.9%) compared to either IgG (72.7%) or IgM (72.7%) antibodies in saliva, but for serum, IgG (90.9%) had a higher degree of sensitivity compared to IgA (36.4%) and IgM (63.6%). Combining all isotypes (IgA, IgG or IgM), serum showed a higher sensitivity (100.0%) compared to saliva (90.9%). Also, the specificity for serum (100.0%) was much higher than saliva (85.4%).
CONCLUSION: Salivary IgA anti-50kDa antibody was found to be more suitable biomarker for routine screening, whereas serum IgG was more suitable for confirmatory test as it has higher specificity. Nevertheless, salivary IgA Dot-EIA is a convenient method for rapid testing, such as for Point-of-Care Diagnostics (POCD) and field epidemiological studies, due to its non-invasive nature and ease of use.