Kojima Y, Hayashi Y, Asai N, Maruyama T, Sasaki S, Kohri K
Department of Urology, Nagoya City University Medical School, Nagoya, Japan.
Urol Int. 1998 Aug;60(4):235-8. doi: 10.1159/000030262.
Two cases of 46,XX true hermaphroditism were analyzed for two Y-DNA sequences, including the recently cloned gene for male testis determination, the sex-determining region of the Y chromosome (SRY).
Polymerase chain reaction was performed to amplify the SRY. DNA was prepared from peripheral blood lymphocytes as well as from gonadal tissue preserved in a paraffin block.
One hermaphrodite contained the SRY sequences in peripheral blood lymphocytes and the testicular part of ovotestis tissue preserved in a paraffin block, while in the second patient these sequences were not detected.
The SRY positive subject resulted from occult Y mosaicism rather than from X-Y translocation. Testis differentiation in the SRY negative subject may have been caused by mutation of a gene on the X chromosome or, alternatively, on an autosome.
对两例46,XX真两性畸形病例进行两个Y-DNA序列分析，包括最近克隆的男性睾丸决定基因——Y染色体性别决定区（SRY）。
采用聚合酶链反应扩增SRY。从外周血淋巴细胞以及石蜡包埋的性腺组织中提取DNA。
一名两性畸形患者的外周血淋巴细胞以及石蜡包埋的卵睾组织的睾丸部分中含有SRY序列，而第二名患者未检测到这些序列。
SRY阳性患者源于隐匿性Y染色体嵌合体，而非X-Y易位。SRY阴性患者的睾丸分化可能是由X染色体或常染色体上的基因突变引起的。
