Mapping the testis determinants by an analysis of Y-specific sequences in males with apparent XX and XO karyotypes and females with XY karyotypes.
A number of patients with paradoxical sex chromosome complements (so-called XY females, XX and XO males) have been investigated with a series of 19 Yp and 4 Yq DNA probes to establish which region of the Y is essential for male sexual differentiation. Of the 23 XX males, 18 possessed one or more Yp probe sequences with only 5 lacking such sequences. Of 9 XY females examined, only one showed evidence of a deletion in Yp occurring either as a result of X-Y interchange or interstitial deletion. This suggests that the majority of XY females are not commonly deleted for those Y sequences which are found to be transferred to the X in XX males. The DNA of two XO males both contained different portions of the Y. From a comparison of the patterns of Yp sequences in these patients, it has been possible to elaborate a model of Yp in terms of the order of probe sequences and to suggest a location for the testis determining region in distal Yp.
Affara
N A
NA
University Department of Medical Genetics, Duncan Guthrie Institute of Medical Genetics, Yorkhill, Glasgow, UK.
Ferguson-Smith
M A
MA
Magenis
R E
RE
Tolmie
J L
JL
Boyd
E
E
Cooke
A
A
Jamieson
D
D
Kwok
K
K
Mitchell
M
M
Snadden
L
L
D002872:Chromosome Deletion; D002874:Chromosome Mapping; D012734:Disorders of Sex Development / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D013737:Testis / Q000196:embryology*; D014998:Y Chromosome / Q000648:ultrastructure