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Nucleic Acids Research, 1986, Vol. 14, No. 16 6489-6505
© 1986

Articles

Deletion mapping of the testis determining locus with DNA probes in 46,XX males and in 46,XY and 46,X,dic(Y)females

Ulrich Müller1, Timothy Donlon1, Michael Schmid3, Naomi Fitch4, Claude-Lise Richer5, Marc Lalande1,6 and Samuel A. Latt1,2

1Genetics Division and Mental Retardation Center, The Children's Hospital, and Depts. Pediatrics Quebec, Canada 3Institute of Human Genetics Koellikerstr. 2, 8700 Würzburg, FRG 4Lady Davis Institute for Medical Research, The Sir Mortimer B.Davis Jewish General Hospital Quebec, Canada 5Dept. Anatomy, University of Montreal Quebec, Canada 2Genetics, Harvard Medical School Boston, MA, USA

Received May 13, 1986. Revised July 14, 1986. Accepted July 14, 1986.

Eleven Y-specific DNA probes hybridizing with DNA from one or more 46, XX males were isolated from a recombinant phage DNA library constructed from flow sorted human Y chromosomes. Two probes hybridized with DNA from nine out of eleven, i.e. >80% of these 46, XX males. The relative frequency of hybridization of the probes in the 46, XX males and in a 46, X,dic(Y) female, together with in situ hybridization data, allowed mapping of the probes on Yp in relation to a putative testis determining locus. Several of those probes were also absent in a 46,XY female, further refining a model for ordering the probes on Yp. The DNA of one XX male hybridized both with probes from Yp and probes from proximal Yq (excluding the pericentral region). This suggests that complex translocations may occur into the DNA of 46, XX males that involve not only parts of Yp but also parts of yq

6Present address: Biotechnology Research Institute, National Research Council, Montreal, Canada


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