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

性别决定、分化及性分化异常的分子遗传学研究。

• 批准号: 08671858
• 负责人: HOSHI Nobuhiko
• 金额: $ 1.41万
• 依托单位: Hokkaido University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 1996
• 资助国家: 日本
• 起止时间: 1996 至 1997
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-08671858/
• 关键词: Sex differentation anomaly; Sex determination; Sex differentiation; SRY; TDF; Cytogenetics and molecular genetics; Mosaicisms; Chimeras; 細胞・分化遺伝子; SPY; 分子遺伝学; 細胞遺伝; 双胎; 多胎妊娠

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".

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印迹杂交，PCR和X（3个基因座）和Y染色体（27个基因座）的直接DNA测序。 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发现了有46个，XX（外周血和左右性腺）和XX雄性的Ovotestis病例，伴有hypospadias和Cryptorchild睾丸（petipheral血液）的XX雄性。与47，X，iDic（YP）*2/45，X/46，X，IDIC（YP）镶嵌物的单卵双胞胎不一性的双胞胎案例被证明是从YQ11.2到YQ终端缺乏的。一个不一致的性爱双胞胎的案例揭示为血液嵌合体。在2例46，x，+mar的情况下，标记被证明源自y染色体，包括p末端至q11.23，以及在剩下的长臂中的对位反转，而i（y）（p10）单独。在包括性腺在内的多个组织中发现了五例表型雌性，46，X，+MAR，45，X细胞系。在SRY阳性病例中没有证明缺失和突变。本报告说明了镶嵌物在与性染色体有关的重要性，鱼类和分子技术是对细胞遗传学方法的补充，以准确鉴定和表征“性别确定”和“性别区分”中染色体重排的染色体重排。

项目成果

Okuyama, K., Hoshi, N., Fujimoto, S: "Prenatal diagnosis in genetic disorders." Obstet. Gynecol.64. 1689-1694 (1997)

Okuyama, K.、Hoshi, N.、Fujimoto, S：“遗传性疾病的产前诊断。”

Nobuhiko, Hoshi: "Seminoma in a postmenopausal woman who demonstrated a Y ; 15 translocation in peripheralbloodlymphocytes,and a t (Y ; 15) /45, X Turner mosaic pattern in skin fibroblasts." J.Med.Genet.35(in press). (1998)

Nobuhiko, Hoshi：“绝经后妇女的精原细胞瘤，外周血淋巴细胞中表现出 Y ; 15 易位，皮肤成纤维细胞中表现出 t (Y ; 15) /45, X 特纳镶嵌图案。”

奥山 和彦: "わが教室における胎児診断と治療" 産婦人科治療. 74. 76-83 (1997)

奥山和彦：“我的课堂上的胎儿诊断和治疗”妇产科治疗74。76-83（1997）。

藤本 俊郎: "外陰の奇形" 産婦人科の実際. 46. 695-709 (1997)

Toshiro Fujimoto：“外阴畸形”妇产科实践 46. 695-709 (1997)。

奥山 和彦: "出生前診断における母体血清マーカーの現時点での評価" 産婦人科の世界. 49. 77-84 (1997)

Kazuhiko Okuyama：“产前诊断中母体血清标志物的当前评估”《妇产科世界》49. 77-84 (1997)。