Study on the sex differentiation relation genes and their mutual regulation

应用FISH、Southern印迹杂交、聚合酶链式反应、聚合酶链式反应-限制性片段长度多态性、聚合酶链式反应-限制性片段长度多态性、聚合酶链式反应-单链构象多态性、聚合酶链式反应-限制性片段长度多态性、聚合酶链式反应-单链构象多态性、聚合酶链式反应-限制性片段长度多态性、聚合酶链式反应-单链构象多态性、聚合酶链式反应-限制性片段长度多态性、聚合酶链式反应-单链构象多态性、聚合酶链式反应-限制性片段长度多态性和DNA直接测序等方法，对20例(11例表型女性，包括3例Turner综合征，15例表型男性，9例表型男性)患者的外周血、脐带血、皮肤、性腺、颊细胞、出生骨髓、羊水和胎盘绒毛进行了检测。标记染色体经G、Q显带和FISH证实，其中2例为X染色体，7例为Y染色体。在分析的样本中，共15例，其中Y 7例，45，X/46，XY 3例，性母细胞瘤2例(XX，XY)，外生殖器不清2例(XX，XY)，小Y 1例，卵巢46，XX(周围型…)1例外周血和左右性腺均有Y含量)，XX男性有下裂和隐睾症(外周血)。1例从Yq11.2到YQ末端缺失47，X，IDIC(Yp)x2/45，X/46，x，idic(Yp)嵌合体的同卵双胞胎。一例性别不一致的异卵双胞胎被发现为血液嵌合体。在2例46，X，+MAR中，标记分别位于Y染色体的p端至q11.23和剩余Y长臂的着丝粒倒位和I(Y)(P10)。在包括性腺在内的几个组织中发现了5例表型为46，X，+mar的雌性，45，X细胞系的嵌合体。在SRY阳性的病例中未发现缺失和突变。现有证据表明，DAZLA基因参与了人类卵子发生(Mol.哼。报告，1999)。此外，我们认为性染色体的丢失(非整倍体)积累了遗传突变，本报告说明性别决定和性别分化取决于SRY基因的表达与组织限制性嵌合体的关系，以及其他基因的重要性，特别是在X染色体上。较少

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