Korean J Lab Med.  2006 Apr;26(2):131-136. 10.3343/kjlm.2006.26.2.131.

Identification of Y-chromosome by Molecular Analysis in Patients with Turner Syndrome

• Kim HR
• Shin JH
• Jung WY
• Lee JN

• KMID: 2238904
• DOI: http://doi.org/10.3343/kjlm.2006.26.2.131

Abstract

BACKGROUND: It is known that the Y chromosome or Y-specific sequence is present in about 6% of Turner syndrome (TS) patients and that it predisposes them to gonadoblastoma formation with an estimated risk of 15-25%. In this study, we performed a polymerase chain reaction (PCR) in 32 patients with TS to detect Y-specific sequence. The results were compared with those obtained by the fluorescence in situ hybridaization (FISH) method.
METHODS
Cytogenetic analysis was performed by phytohaemagglutinin (PHA)-stimulated peripheral lymphocyte cultures, using G-banding. DNA was extracted from peripheral blood for PCR. Seven different sets of oligonucleotide primers, sex determining region Y (SRY), zinc finger gene on the Y chromosome (ZFY), testis specific protein Y (TSPY), DYZ3, DYF49S1, RNA binding motif protein (RBM), and DYZ1, spanning on centromeres and short and long arms of the Y chromosome were used for PCR. FISH was carried out using X and Y chromosome enumeration probe for Xp11.1-q11.1 (DXZ1 locus) and Yp11.1-q11.1 (DYZ3 locus), respectively.
RESULTS
Among 32 patients with TS, four (12.5%) were positive for Y specific sequence by PCR. Of these, two patients were detected previously by a cytogenetic analysis: 45,X/47,XYY and 45,X/46,XY. Only one Y specific sequence, DYZ3, was detected by PCR in the other two patients without cytogenetically obvious Y chromosome. Y signal was not detected by FISH for the last two patients.
CONCLUSIONS
It may be reasonable to consider using a PCR method to screen for Y-specific sequences in all patients with TS. Even though we did not demonstrate Y-signal by FISH in patients with PCR positive and cytogenetically no obvious Y chromosome, FISH may be another useful method in TS patient, and futher investigation is nessessary.

Keyword

Turner syndrome; Y-chromosome; Gonadoblastoma; PCR; FISH

MeSH Terms

Arm
Centromere
Cytogenetic Analysis
DNA
DNA Primers
Fluorescence
Gonadoblastoma
Humans
Lymphocytes
Polymerase Chain Reaction
RNA
Testis
Turner Syndrome*
Y Chromosome
Zinc Fingers
DNA
DNA Primers
RNA

Figure

• 

  Fig. 1. Multiplex PCR amplification of the DYZ3 gene (M, marker; C, negative control; P, positive control; lanes 1–4, Cases 1–4 was described in Table 3). Abbreviation: PCR, polymerase chain reaction.

Reference

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