Figure 1.
Graphic scheme of the chromosomal localization of the eight sex chromosomal markers used in the newly designed multiplex PCR assay.
The markers were located according to Human Genome Browser – hg38 assembly.
Table 1.
Marker and primer composition of the new 10-plex assay for the detection of sex chromosome aneuploidies.
Figure 2.
Representative examples for a normal female (A), a normal male (B), a trisomy X (47, XXX) (C), a Klinefelter syndrome (47, XXY) (D), a Jacob’s syndrome (47, XYY) (E) and a Turner syndrome (45, X) (F) obtained through the 10-plex QF-PCR assay.
The results are produced using the GeneMapper software, showing full ranges and all sizes of the detected peaks on the vertical and horizontal axes respectively for intuitive intra-sample visual comparison of the peaks. Fragment sizes are shown in bp on the horizontal axis. Arbitrary fluorescence units are shown on the vertical axis.
Figure 3.
Comparison of peak ratios of AMXY to autosomal internal controls ((A) D21S11 and (B) D13S305) between confirmed Tuner samples and normal samples. Unpaired t tests were used.
***P<0.0001. Dash lines showed the cutoff values of AMXY/D21S11 (0.55) and AMXY/D13S305 (0.5), which would be used as the criteria for determination of Turner syndromes when suspected cases show single peaks for all X-linked markers and no peaks for AMY and SRY.
Figure 4.
Capillary electrophoresis results for three samples with sex chromosomal aneuploidies identified in the prospective examination, including (A) a suspected 23, X finally confirmed by karyotyping, (B) a case of triploidy ‘69, XXX’, and (C) a case of triploidy with an additional chromosome 21 (70, XXX,+21).
Table 2.
Summary of diagnostic results by QF-PCR and karyotyping.
Table 3.
Heterozygosity and repeat numbers of the selected STR markers in the tested Chinese Han population.