PCR-based detection of mosaicism in Turner syndrome patients.
To study the possible role of cryptic mosaicism in phenotypical variations of 45,X Turner syndrome, we analyzed low-level mosaicism by methods based on the polymerase chain reaction. For the detection of Y-chromosome-derived fragments, we used three Y-specific primer pairs representing the centromere, Yp11.3, and Yq12. None of the 18 patients with 45,X had Y-derived chromosomes. For the detection of X chromosome mosaicism, we employed a novel modified HUMARA (human androgen receptor) assay, which proved to be a sensitive method with a detection limit as low as 1 in 960 cells. Using this assay, we detected low frequency cryptic X chromosome mosaicism in 2 of 18 cytogenetically 45,X patients.
Yorifuji
T
T
Department of Pediatrics, Kyoto University Hospital, Japan.
Muroi
J
J
Kawai
M
M
Sasaki
H
H
Momoi
T
T
Furusho
K
K
D002874:Chromosome Mapping; D017931:DNA Primers; D005260:Female; D006801:Humans; D008297:Male; D009030:Mosaicism; D016133:Polymerase Chain Reaction; D011944:Receptors, Androgen / Q000235:genetics; D012680:Sensitivity and Specificity; D014424:Turner Syndrome / Q000235:genetics*; D014960:X Chromosome; D014998:Y Chromosome
D017931:DNA Primers; D011944:Receptors, Androgen