Study on the sex differentiation relation genes and their mutual regulation

在20个案件的40个人中，（来自11例表型女性（包括3例Turner综合征）的25份样本和来自9例表型男性的15份样本），根据临床和细胞遗传学结果推测为性分化异常，外周血、脐带血、皮肤、性腺、颊细胞、出生骨髓，采用FISH、Southern印迹杂交、PCR、PCR-RFLP、PCR-SSCP、PCR-CFLP和DNA直接测序等方法对羊水和胎盘绒毛组织中的X染色体（3个位点）和Y染色体（27个位点）、3 p25上的DAZ、DAZLA进行了检测。经G、Q显带和FISH证实，标记染色体2例来源于X染色体，7例来源于Y染色体。其中Y染色体7例，45，X/46，XY染色体3例，性腺母细胞瘤（XX，XY）2例，外生殖器不清（XX，XY）2例，小Y染色体1例，46，XX（外周型）睾丸1例。 关于我们 外周血及左右两侧性腺）和XX例男性尿道下裂隐睾患者外周血中均检出Y。1例性别不一致的同卵双生子均具有47，X，X（Yp）x ~ 2/45，X/46，X，X（Yp）嵌合体，但Yq 11.2 ~ Yq端缺失。一例性别不一致的双卵双胞胎被发现为血液嵌合体。在2例46，X，+mar的病例中，标记物来自Y染色体，包括p端至q11.23和剩余Y长臂的旁着丝粒倒位，以及I（Y）（p10）。5例46，X，+mar，45，X细胞系嵌合体的表型女性，在包括性腺在内的多个组织中发现。SRY阳性者未发现缺失和突变。现有证据表明DAZLA基因参与人类卵子发生（Mol. Hum.生殖，1999年）。本研究进一步阐明了SRY基因的表达与性别决定和性别分化的关系，以及其他基因的重要性，特别是在X染色体上。少

In a total of 40 individuals from 20 cases (25 samples from 11 cases of phenotypic females including 3 Turner's syndrome, and 15 samples from 9 cases of phenotypic males) under the informed consent, which was presumed as sex differentiation anomaly by clinical and cytogenetic findings, peripheral blood, cord blood, skin, gonad, buccal cells, born marrow, amniotic fluid and placental chorionic villi were examined by FISH, Southern blot hybridization, PCR, PCR-RFLP, PCR-SSCP, PCR-CFLP and direct DNA sequencing for X (3 loci) and Y chromosomes (27 loci), DAZ, DAZLA which we previously identified on chromosome 3p25. Marker chromosomes were demonstrated that 2 cases were derived from X and 7 were derived from Y by using G, Q banding and FISH. Among the samples analyzed, a total of 15 cases including of these 7 cases from Y, 3 cases of 45,X/46,XY, 2 cases of gonadoblastoma (XX, XY), 2 cases of ambiguous external genitalia (XX, XY) and 1 case of small Y, a case of ovotestis with 46,XX (periph … More eral blood and both right and left gonads), and XX male with hypospadias and cryptorchild testis (peripheral blood) were found any Y contents. A case of monozygotic twins of discordant sex both with 47,X,idic(Yp)x2/45,X/46,X,idic(Yp) mosaicism was demonstrated to lack from Yq11.2 to Yq terminal. A case of dizygotic twins of discordant sex was revealed to be blood chimerism. In 2 cases of 46,X,+mar, the markers were demonstrated derived from a Y chromosome including p terminal to q11.23 and paracentric inversion in the remained Y long arm, and I(Y)(p10) individually. Five cases of phenotypic female with 46,X,+mar, mosaicism of 45,X cell line were found in several tissue including gonads. No deletion and mutation were demonstrated in SRY positive cases. Available evidence suggests that the DAZLA gene is a participant in human oogenesis (Mol. Hum. Reprod., 1999). Furthermore, we designated loss of sex chromosome (aneuploidy) accumulate genetic mutation,The present report illustrates that "sex determination" and "sex differentiation" are depend upon SRY gene expression in relation to tissue limited mosaicism, and the importance of other gene, especially in X chromosome. Less