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通过细胞遗传学和Y特异性重复DNA探针进行产前Y染色体缺失的鉴定。

Prenatal identification of a deleted Y chromosome by cytogenetics and a Y-specific repetitive DNA probe.

作者信息

Disteche C, Luthy D, Haslam D B, Hoar D

出版信息

Hum Genet. 1984;67(2):222-4. doi: 10.1007/BF00273007.

DOI:10.1007/BF00273007
PMID:6745944
Abstract

A very small sex chromosome was identified prenatally as a Y chromosome by using molecular hybridization in conjunction with conventional cytogenetics techniques. The combination of R-banding, Q-banding, distamycin-DAPI staining suggested that the chromosome might be a de novo deletion of the Y chromosome as the father's Y chromosome was normal. Restriction enzyme analysis of amniotic fluid cell DNA using a Y chromosome repetitive probe confirmed the origin of this chromosome.

摘要

通过分子杂交结合传统细胞遗传学技术，在产前鉴定出一条非常小的性染色体为Y染色体。R显带、Q显带、地衣霉素 - DAPI染色的联合结果表明，由于父亲的Y染色体正常，这条染色体可能是Y染色体的新生缺失。使用Y染色体重复探针进行羊水细胞DNA的限制性酶切分析证实了这条染色体的来源。

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本文引用的文献

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Characterization of a new aberration of the human Y chromosome by banding methods and DNA restriction endonuclease analysis.通过显带方法和DNA限制性内切酶分析对人类Y染色体一种新畸变的特征描述。
Hum Genet. 1981;59(1):26-35. doi: 10.1007/BF00278850.
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Y chromosome specific probes identify breakpoint in a 45,X/46,X,del(Y)(pter----q11.1:) karyotype of an infertile male.Y染色体特异性探针鉴定出一名不育男性45,X/46,X,del(Y)(pter----q11.1:)核型中的断点。
J Med Genet. 1989 May;26(5):330-3. doi: 10.1136/jmg.26.5.330.
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A rapid method for detection of Y-chromosomal DNA from dried blood specimens by the polymerase chain reaction.一种通过聚合酶链反应从干血标本中检测Y染色体DNA的快速方法。
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Multiple minute marker chromosomes derived from Y identified by FISH in an intersexual infant.在一名两性畸形婴儿中通过荧光原位杂交（FISH）鉴定出多条源自Y染色体的微小标记染色体。
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Human amniotic fluid cells grown in a hormone-supplemented medium: suitability for prenatal diagnosis.在添加激素的培养基中培养的人羊水细胞：适用于产前诊断。
Proc Natl Acad Sci U S A. 1982 Aug;79(15):4795-9. doi: 10.1073/pnas.79.15.4795.
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Improved direct molecular diagnosis and rapid fetal sexing.改进的直接分子诊断和快速胎儿性别鉴定。
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Single-copy sequence hybridizes to polymorphic and homologous loci on human X and Y chromosomes.单拷贝序列与人类X和Y染色体上的多态性和同源基因座杂交。
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Identification of human chromosomes by DNA-binding fluorescent agents.利用DNA结合荧光剂鉴定人类染色体
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Quinacrine fluorescence of the human Y chromosome.人类Y染色体的喹吖因荧光
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