| Full text | |
| Author(s): |
Rocha, M. N.
[1]
;
Longui, C. A.
;
Kochi, C.
;
Correa, C. S. A.
;
Faria, C. D. C.
;
Richeti, F.
;
Melo, M. R.
Total Authors: 7
|
| Affiliation: | [1] Fac Ciencias Med Santa Casa Sao Paulo, Mol Med Lab, Dept Physiol, BR-01221020 Sao Paulo - Brazil
Total Affiliations: 1
|
| Document type: | Journal article |
| Source: | Hormone and Metabolic Research; v. 42, n. 9, p. 677-681, AUG 2010. |
| Web of Science Citations: | 4 |
| Abstract | |
Turner syndrome (TS) is the complete or partial loss of the second sex chromosome, occurring in 1: 5 000 girls. Early recognition allows appropriate therapy for short stature and puberty. Neonatal diagnosis of TS permits detection of associated malformations, minimizing sequels. Aiming to develop a molecular method for the diagnosis of TS we employed blood samples stored on filter paper. We evaluated 78 female controls, 25 TS girls with 45, X karyotype, and 32 TS patients with other karyotypes. After DNA extraction, samples were submitted to real-time PCR, using primers and probes directed to the study gene ARSE and to the control gene GAPDH. A ROC curve established the ARSE: GAPDH ratio with a cutoff value of 0.7. Low ARSE: GAPDH ratio of < 0.7 was present in 100 % of 45, X TS patients. This cutoff value presented a sensitivity of 100 % and a specificity of 100 % in detecting 45, X TS patients with a positive predictive value of 100 % and a negative predictive value of 100 %. The same cutoff value was able to identify only 56 % of TS with other karyotypes, in which we observed a mean (SD) ARSE: GAPDH ratio = 0.66 (0.2); and the interquartile range = 0.4-0.8. Determination of ARSE: GAPDH ratio is a fast, sensitive, and specific method, with viable cost and feasible automation, which makes it potentially applicable in neonatal screening programs for the diagnosis of Turner syndrome 45,X. (AU) | |