Applicability of Real-Time PCR Methodology in the Neonatal Detection of Turner Syndrome

作者：Rocha M N^*; Longui C A; Kochi C; Correa C S A; Faria C D C; Richeti F; Melo M R

来源：Hormone and Metabolic Research, 2010, 42(9): 677-681.

DOI：10.1055/s-0030-1253351

• neonatal screening
• ARSE gene
• real-time PCR
• Turner syndrome

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.

• 出版日期2010-8