Rapid and early determination of sex using trophoblast biopsy specimens and Y chromosome specific DNA probes.

Gilles Vergnaud 1, 2 L Kaplan J Weissenbach 3 Y Dumez R Berger P Tiollais G Guellaen 4
1 IGM - Institut de génétique et microbiologie [Orsay]
2 ENSTA Paris - École Nationale Supérieure de Techniques Avancées
3 GENOSCOPE - Genoscope - Centre national de séquençage [Evry]
4 IMRB - Institut Mondor de Recherche Biomédicale
Abstract : The feasibility of determining sex by analysing deoxyribonucleic acid (DNA) with two probes specific for Y chromosomes was shown using DNA obtained from samples of blood from 30 non-related males and females of different ethnic origin. The DNA was spotted on nitrocellulose filters and hybridised with both a repetitive (P1) and a unique (49f) sequence specific for the human Y chromosome. A strong positive signal with both probes indicated the presence of male DNA. The sex of 12 fetuses was then similarly determined by molecular characterisation of DNA from trophoblast biopsy specimens. Chorionic samples were obtained in seven cases before termination of pregnancy in the first trimester and the aborted embryos subjected to karyotyping and sex chromatin analysis. In the five other cases samples were obtained from placentas obtained during caesarean section. Results of hybridisation were compared with those from cytogenic studies and actual sex at birth. The sex of all 12 fetuses was determined correctly by hybridisation.
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Journal articles
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https://hal-ensta-paris.archives-ouvertes.fr//hal-01160714
Contributor : Gilles Vergnaud <>
Submitted on : Saturday, June 6, 2015 - 5:58:01 PM
Last modification on : Monday, February 10, 2020 - 6:13:42 PM

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Gilles Vergnaud, L Kaplan, J Weissenbach, Y Dumez, R Berger, et al.. Rapid and early determination of sex using trophoblast biopsy specimens and Y chromosome specific DNA probes.. British medical journal (Clinical research ed.), 1984, 289 (6437), pp.73-6. ⟨hal-01160714⟩

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