Ann Pediatr Endocrinol Metab.  2021 Dec;26(4):272-277. 10.6065/apem.2142026.013.

Recognition of the Y chromosome in Turner syndrome using peripheral blood or oral mucosa tissue

• Barbosa LG
• Siviero-Miachon AA
• Souza MA
• Spinola-Castro AM

• KMID: 2523834
• DOI: http://doi.org/10.6065/apem.2142026.013

Abstract

Purpose
Turner syndrome is defined as total or partial loss of the second sex chromosome in a phenotypically female patient. Due to the possibility of hidden mosaicism of fragments of the Y chromosome and development of gonadoblastoma, we evaluated the presence of such fragments in 2 tissues with different embryonic origins, peripheral blood lymphocytes (mesoderm), and oral mucosal cells (ectoderm) using multiplex polymerase chain reaction.
Methods
DNA samples were collected from 109 patients, and primers for the SRY, TSPY, and AMELX genes were used.
Results
We found 14 patients (12.8%) with positive molecular markers for the Y chromosome. The study of tissues of different embryological origin showed the same degree of agreement, sensitivity, and specificity.
Conclusion
Oral mucosa cells have a simpler method of collection that is less invasive and requires less time for DNA extraction at a lower cost.

Keyword

Turner syndrome; Polymerase chain reaction; Y chromosome; Oral mucosa; Peripheral blood

Figure

• 

  Fig. 1. Agarose gel electrophoresis at 1.8% of the multiplex polymerase chain reaction (mPCR) of Y-positive samples. (A) Multiplex PCR samples in peripheral blood leukocytes. (B) Oral mucosa swab samples. Channel 1: 100-pb ladder, channels 2 to 15: patients, channel 16: control 46, XY, channel 17: control 46, XX, and channel 18: white control. Genes: SRY=236 bp; TSPY=343 bp, and AMELX=474 bp.

Reference

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