[Molecular genetic analysis on six cases of sex reversal syndrome]

Southern blot hybridization using Y-specific DNA probes and electrophoretic analysis of the SRY gene fragment amplified through polymerase chain reaction (PCR) have been performed in six cases of sex reversal syndrome (three 46, XX males and three 46, XY females). The result showed that the Y-specific DNA hybridization signal and SRY sequence were absent in one XX male and present in the remaining cases. This finding indicates that testis development of this XX male was initiated in the absence of the SRY gene.