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".

临床和细胞遗传学结果推测性别分化异常的19例（10例表型女性，包括3例特纳氏综合征，25例，9例表型男性，15例）中的40人中，外周血、检查脐带血、皮肤、性腺、口腔细胞、出生骨髓、羊水和胎盘绒毛膜绒毛X（3 个基因座）和 Y 染色体（27 个基因座）的 FISGH、Southern blot 杂交、PCR 和直接 DNA 测序。通过G、Q显带和FISH检测，标记染色体显示2例来自X，7例来自Y。分析的样本中，7例来自Y，3例来自Y，共15例，3例来自Y。 /46，XY，性腺母细胞瘤2例（XX，XY），外生殖器不明确2例（XX，XY），0f小Y，a 1例46例卵睾，XX（外周血及左右性腺），XX男性尿道下裂及隐子睾（外周血）均检出Y内容物。一例性别不一致的同卵双胞胎均具有 47, X,idic (Yp)*2/45, X/46, X,idic (Yp) 嵌合体，被证明从 Yq11.2 到 Yq 末端均缺乏。一例性别不一致的异卵双胞胎被发现是血液嵌合现象。在46，X，+mar的2例中，标记物被证明源自Y染色体，包括P末端到q11.23和剩余Y长臂的旁着丝粒倒位，以及单独的i(Y)(p10)。 5例女性表型为46，X，+mar，在包括性腺在内的多个组织中发现了45，X细胞系的嵌合体。 SRY 阳性病例中未发现缺失和突变。本报告说明了嵌合体与性染色体相关的重要性，以及 FISH 和分子技术作为细胞遗传学方法的补充，用于准确识别和表征“性别决定”和“性别差异”。

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。”

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）。

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。”

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)。