Study on the sex differentiation relation genes and their mutual regulation

在知情同意下，经临床及细胞遗传学检查推定为性别分化异常的20例患者共40例（其中表型为特纳氏综合征的11例女性患者25例，表型为特纳氏综合征的3例男性患者15例），采用FISH、Southern blot杂交、PCR、PCR- rflp、PCR- sscp，对外周血、脐带血、皮肤、性腺、颊细胞、出生骨髓、羊水和胎盘绒毛膜绒毛进行检测。PCR-CFLP和直接DNA测序对X（3个位点）和Y染色体（27个位点），DAZ， DAZLA，我们之前在3p25染色体上鉴定。标记染色体通过G带、Q带和FISH分析证实2例来自X， 7例来自Y。分析样本共15例，其中7例来自Y， 3例来自45、X/46、XY， 2例性腺母细胞瘤（XX、XY）， 2例外生殖器模糊（XX、XY）和1例小Y， 1例卵泡睾丸有46、XX（外周血液和左右性腺），男性尿道下裂和隐睾（外周血液）均有Y含量。1例性别不一致的同卵双生同时具有47、X、idic(Yp)x2/45、X/46、X、idic（Yp）嵌合现象，从Yq11.2到Yq端缺失。一例性别不一致的异卵双胞胎被发现是血液嵌合。在2例46，X，+mar中，标记分别来自一条Y染色体，包括p末端至q11.23和剩余Y长臂的顺中心反转，以及I(Y)（p10）。5例表型雌性在生殖腺等多个组织中发现46、X、+mar、45、X嵌合细胞系。在SRY阳性病例中未发现缺失和突变。现有证据表明，DAZLA基因是人类卵子发生的一个参与者。天线转换开关。, 1999)。此外，我们还指出了性染色体缺失（非整倍体）积累的基因突变，本报告说明了“性别决定”和“性别分化”取决于SRY基因在组织有限嵌合中的表达，以及其他基因的重要性，特别是在X染色体中。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