Molecular genetic study on sex determination, differentiation and sexual differentiation anomaly.

采用FISGH、Southern印迹杂交、聚合酶链式反应和DNA直接测序等方法，对19例(10例表型女性25例，其中Turner综合征3例，表型男性9例15例)患者外周血、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分析，其中2例来源于X，7例来源于Y，其中Y起源15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(外周血和左右两性腺)1例，XX男性下裂和隐睾症(叶静脉血)1例。1例从Yq11.2到YQ末端缺失47，X，IDIC(Yp)*2/45，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，标记分别来自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阳性的病例中没有发现缺失和突变。本报告说明了与性染色体有关的嵌合体的重要性，以及FISH和分子技术作为细胞遗传学方法的补充，以准确地鉴定和表征“性别决定”和“性别分化”中的染色体重排。

In a total of 40 individuals from 19 cases (25 samples from 10 cases of phenotypic females including 3 Turner's syndrome, and 15 samples from 9 cases of phenotypic males), which was presumed as sex differentiation anomaly by clinical and cytogenetic findings, peripheral blood, cord blood, skin, gonad, bucal cells, born marrow, amniotic fluid and placental chorionic villi were examined by FISGH,Southern blot hybridization, PCR and direct DNA sequencing for X (3 loci) and Y chromosomes (27 loci). 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 analyzrd, a total of 15 ceses 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 cases 0f small Y,a case of ovotestis with 46, XX (peripheral blood and both right and left gonads), and XX male with hypospadias and cryptorchild testis (petipheral blood) were found any Y contents. A case of monozygotic twins of discordant sex both with 47, X,idic (Yp)*2/45, 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.The present report illustrates the importance of mosaicism in relation to sex chromosome, and FISH and molecular techniques as a complement to cytogenetic method for accurate identification and characterization of chromosome rearrangements in "sex determination"and "sex differentation".