Cheng Y E, Gartler S M
University of Washington Medical Center, Department of Obstetrics and Gynecology, Seattle 98195.
Hum Genet. 1994 Oct;94(4):389-94. doi: 10.1007/BF00201599.
Fluorescent in situ hybridization (FISH) utilizating an X chromosome whole library probe was used directly to assess the rate of aneuploidy and pairing behavior of the X chromosome in human female meiosis. Over 3000 meiotic cells obtained from fetal ovaries (gestational age 13-22 weeks) were scored for meiotic stage and evaluated for pairing abnormalities. No pairing anomalies were observed in 832 pachytenes. Twenty-two percent (88/398) of cells in zygotene were partially paired, but nonhomologous pairings could not be identified. One aneuploid preleptotene oocyte, presumably from mitotic nondisjunction was detected. To our knowledge, this is the first report of the use of FISH utilizing whole chromosome probes to evaluate the pairing behavior of chromosomes in human female meiosis. The application of this technique to study the relationship between nondisjunction and chromosome pairing behavior in maternal-age-related aneuploidy is discussed.
利用X染色体全文库探针的荧光原位杂交（FISH）技术被直接用于评估人类女性减数分裂中X染色体的非整倍体率和配对行为。从胎儿卵巢（妊娠13 - 22周）获得的3000多个减数分裂细胞被进行减数分裂阶段评分，并评估配对异常情况。在832个粗线期细胞中未观察到配对异常。偶线期22%（88/398）的细胞部分配对，但无法识别非同源配对。检测到一个非整倍体前细线期卵母细胞，推测来自有丝分裂不分离。据我们所知，这是首次使用全染色体探针的FISH技术评估人类女性减数分裂中染色体配对行为的报告。讨论了该技术在研究与母亲年龄相关的非整倍体中不分离与染色体配对行为之间关系的应用。
