SRY GENE SCREENING IN TURNER SYNDROME BY POIYMERASE CHAIN REACTION (PCR)

AbstractThe aims of this study were to establish whether the sex-determining region Y gene and its mRNA transcript are present in the Y sperm and X sperm of bulls and, if present, determine their cellular localization. Semen was collected from three bulls and sorted by flow cytometry into X- and Y-chromosome populations. Reverse transcription-polymerase chain reaction (RT-PCR) was used to determineSrymRNA expression in X sperm and Y sperm. The presence and localization ofSryDNA and RNA were investigated by fluorescence in situ hybridization (FISH). RT-PCR detected a singleSrytranscript of 142 bp in Y sperm but not in X sperm. In Y sperm, the FISH-positive rates forSryDNA andSryRNA did not differ significantly from the re-analyzed Y sperm purity. In further experiments, there were no significant differences between the FISH-positive rate forSryRNA and the re-analyzed Y sperm purity for X-sorted, Y-sorted, or unsorted sperm. In conclusion, FISH analysis revealed thatSrytranscripts are present at the edges of the sperm heads of Y sperm but are absent from X sperm.

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Morphological features of female gonadal dysgenesis and karyotype in patients with Shereshevsky-Turner syndrome

V F Snegirev Archives of Obstetrics and Gynecology ◽

10.18821/2313-8726-2016-3-2-87-91 ◽

2016 ◽

Vol 3 (2) ◽

pp. 87-91

Author(s):

Evgeniya A. Kogan ◽

O. E Ushakova ◽

Yu. N Kur’yanova ◽

N. M Fayzullina ◽

O. K Stupko

Keyword(s):

Turner Syndrome ◽

Gonadal Dysgenesis ◽

Control Group ◽

Sry Gene ◽

Ki 67 ◽

Inhibin A ◽

Tissue Samples ◽

Blood Lymphocytes ◽

Ovarian Stroma ◽

Morphological Variants

The aim of the work - the study of the morphological and immunophenotypic variants of the structure gonads in gonadal dysgenesis (GD) and karyotypic characteristics of patients with the Shereshevsky-Turner syndrome (SHTS). There were investigated the tissue samples of the removed gonads and ovaries from 16 SHTS patients with GD and 11 patients from the control group without SSHT whose ovaries had been removed due to parovarian cysts. The morphological study was executed with immunohistochemical typing of gonadal tissue with the detection of expression: Ki-67, Vimentin, Desmin, Inhibin A, ER ( «DAKO»), AR ( «SpringBioscience»). The karyotype was investigated by means of cytogenetic method, whereas the presence of the SRY-gene - with aid of PCR-reaction in blood lymphocytes. As a result, there were established morphological variants of GD in SHTS: streak-gonads (8 patients), GD with ovarian stroma (6 patients), GD with the formation of the gonadoblastoma (2 patients). At that in the blood lymphocytes of SHTS patients there were discovered following karyotypes: 45Х, 45X/46XY, 45X/46XX, 45, Х, t (4, 19) (р14, q13.3), 45, Х[5]/46, Xi(X)(q10)[20], 45, Х[31]/46, Xi(X)(q10)[19], 46Xpsui(Y)(q10)[6]/45, Х[3]/46 XY[20]. There were revealed statistically significant correlations between karyotypes of blood lymphocytes and immunophenotypes of cell of the genital cord stroma, fibroblasts and GD germinal cells. Markers directly relating to the survival of follicles: inhibin-a, AR, ER were of the greatest importance for the development of someone or other morphological variant. GD in patients with ovarian stroma were differed in the greatest expression of ER (p < 0.05). SRY-gene was detected in the 1 patient with the lack of Y-chromosome. In two patients gonadoblastoma was found in GD without the presence of the SRY-gene in blood lymphocytes. The data obtained testify to a variety of morphologic and immunophenotypic variants of GD in SHTS, which are not always correlated with the karyotype of blood lymphocytes ofpatients that may partly reflect a possible discrepancy between the karyotypeofblood lymphocytes and DG tissue due to gene mosaicism.

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Analysis of the SRY Gene in Turner Syndrome Patients from the Republic of Macedonia

Balkan Journal of Medical Genetics ◽

10.2478/v10034-008-0025-x ◽

2008 ◽

Vol 11 (2) ◽

Cited By ~ 2

Author(s):

A Papazovska-Cherepnalkovski ◽

S Koceva ◽

M Kocova

Keyword(s):

Turner Syndrome ◽

Sry Gene ◽

Republic Of Macedonia ◽

The Republic

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SRY Gene Marker Differences in Native and Crossbreed Cattle

Buletin Peternakan ◽

10.21059/buletinpeternak.v42i3.29940 ◽

2018 ◽

Vol 42 (3) ◽

Author(s):

Tety Hartatik ◽

Dwi Ahmad Priyadi ◽

Ali Agus ◽

Sigit Bintara ◽

I Gede Suparta Budisatria ◽

...

Keyword(s):

Promoter Region ◽

Marker Gene ◽

Genetic Variations ◽

Gene Marker ◽

Sry Gene ◽

Chain Reaction ◽

Male Side ◽

Pcr Products ◽

Nellore Cattle ◽

Polymerase Chain

This study focused on the promoter region of the SRY gene with 1,281 bp DNA fragments, including 5'UTR, CAAT signal, and TATA box. Genomic samples of 19 cattle were obtained from Wagyu-BX (n = 2), BX (n = 5), Simmental (n = 2), Limousin (n = 2), Ongole (n = 2), Madura (n = 2), Bali (n = 2), Nellore (n = 1), and Hereford (n = 1). Two flanking primers (forward and reverse) were used for polymerase chain reaction (PCR). The PCR products were then sequenced by using a two-way primer. The obtained sequences were aligned with clustalW software to determine the differences in the nucleotide base arrangement which compiled the promoter region of the SRY gene. The cattle crossbreeding was done as an effort to improve the genetic variations and qualities. The SRY gene is a marker gene inherited from the male side (bull), so the SRY gene is expected to be used as a marker to monitor the crossbreeding. The monitoring of the crossbreed cattle is an initial effort to increase the genetic variations and enhance the genetic qualities without threatening the germplasm purity. The results of this study showed that the overall sample is monomorphic, except for Bali and Nellore cattle. Further research is needed by expanding the analysis area of the SRY gene and increasing the number of samples.

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Detection of the SRY gene in patients with Turner Syndrome

Journal of Gynecology Obstetrics and Human Reproduction ◽

10.1016/j.jogoh.2019.01.012 ◽

2019 ◽

Vol 48 (4) ◽

pp. 265-267

Author(s):

Erdal Kurnaz ◽

Semra Çetinkaya ◽

Şenay Savaş-Erdeve ◽

Zehra Aycan

Keyword(s):

Turner Syndrome ◽

Sry Gene

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SRY Gene Increases the Risk of Developing Gonadoblastoma and/or Nontumoral Gonadal Lesions in Turner Syndrome

International Journal of Gynecological Pathology ◽

10.1097/pgp.0b013e318186a825 ◽

2009 ◽

Vol 28 (2) ◽

pp. 197-202 ◽

Cited By ~ 36

Author(s):

Bianca Bianco ◽

Mônica Lipay ◽

Alexis Guedes ◽

Kelly Oliveira ◽

Ieda T. N. Verreschi

Keyword(s):

Turner Syndrome ◽

Sry Gene

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Histologic Analysis of Gonadal Tissue in Patients with Ullrich-Turner Syndrome and Derivative Y Chromosomes

Pediatric and Developmental Pathology ◽

10.1007/s10024-004-1013-0 ◽

2005 ◽

Vol 8 (2) ◽

pp. 197-203 ◽

Cited By ~ 5

Author(s):

L.-C. Horn ◽

A. Limbach ◽

W. Hoepffner ◽

R.B. Tröbs ◽

E. Keller ◽

...

Keyword(s):

At Risk ◽

Polymerase Chain Reaction ◽

Turner Syndrome ◽

Molecular Genetic ◽

Germ Cell Tumors ◽

Molecular Genetic Analysis ◽

Chain Reaction ◽

Additional Tool ◽

Polymerase Chain ◽

Chromosomal Sequences

To identify patients who had Ullrich-Turner syndrome (UTS) and were at risk for gonadoblastoma or associated germ cell tumors, molecular genetic analysis was carried out to detect Y chromosomal sequences. From peripheral blood samples of 5 patients who had cytogenetically confirmed UTS, genomic DNA was extracted and screened for Y chromosomal sequences by polymerase chain reaction. The morphology of the gonadal tissues was compared with results from polymerase chain reaction. Three phenotypic females showed UTS mosaicism with normal X chromosome accompanied by Y chromosomal material, and 2 patients showed marker chromosomes. Molecular analysis represented loci PABY, SRY, ZFY, TSPY, DYZ3, DYZ1 DXYS, 19Y, DYS-273, DYS-148, DYS218, DYS224, and DYZ1. Three patients showed gonadal tumors (1 with unilateral gonadoblastoma, 1 with unilateral dysgerminoma, and 1 patient had both tumors in 1 gonad). Molecular genetic screening for Y chromosomal sequences may be useful as an additional tool for the identification of patients at risk for a gonadal tumor. Careful, complete processing, including step sectioning, of the gonadectomy specimens to detect small lesions is recommended.

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