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[Y染色体臂间倒位患者的精子荧光原位杂交分析]

[Sperm-fluorescence in situ hybridization analysis in patients with pericentric inversions of Y chromosome].

作者信息

Luo Yu-qin, Qian Yu-li, Lu Huan-ming, Xu Chen-ming, Jin Fan

机构信息

Department of Clinical Laboratory, Women's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, 310006 PR China.

出版信息

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Feb;26(1):54-6. doi: 10.3760/cma.j.issn.1003-9406.2009.01.012.

DOI:10.3760/cma.j.issn.1003-9406.2009.01.012
PMID:19199252
Abstract

OBJECTIVE

To analyze the sex chromosome meiotic segregation in inv(Y) patients by fluorescence in situ hybridization (FISH).

METHODS

Conventional cytogenetic procedures (GTG and CBG banding) and FISH were performed on metaphase chromosome. Three-color FISH was performed on sperm samples using a probe mixture containing CEPX, Tel Xp/Yp and Tel Xq/Yq to investigate the sex chromosome segregation of five inv(Y) (p11.1q11.2) carriers. A healthy man with normal semen parameters was used as control.

RESULTS

There was no statistical difference in the abnormal sex chromosome number and recombination frequencies in each spermatozoon from the patient in comparison with that in the control.

CONCLUSION

There was no apparent sex chromosome abnormality in the sperm of the inv(Y) (p11.1q11.2) carriers. Sperm-FISH allows further understanding of the sex chromosome segregation pattern and an accurate genetic counseling.

摘要

目的

通过荧光原位杂交(FISH)分析inv(Y)患者的性染色体减数分裂分离情况。

方法

对中期染色体进行常规细胞遗传学检查(GTG和CBG显带)及FISH。使用包含CEP X、Tel Xp/Yp和Tel Xq/Yq的探针混合物对5例inv(Y)(p11.1q11.2)携带者的精子样本进行三色FISH,以研究性染色体分离情况。选取一名精液参数正常的健康男性作为对照。

结果

与对照组相比,患者每个精子中性染色体数目异常及重组频率无统计学差异。

结论

inv(Y)(p11.1q11.2)携带者的精子中无明显性染色体异常。精子FISH有助于进一步了解性染色体分离模式并进行准确的遗传咨询。

相似文献

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Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Feb;26(1):54-6. doi: 10.3760/cma.j.issn.1003-9406.2009.01.012.
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Meiotic segregation analysis in spermatozoa of pericentric inversion carriers using fluorescence in-situ hybridization.使用荧光原位杂交技术对臂间倒位携带者精子进行减数分裂分离分析。
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Sperm-FISH analysis in a pericentric chromosome 1 inversion, 46,XY,inv(1)(p22q42), associated with infertility.精子荧光原位杂交分析在一例与不育相关的1号染色体臂间倒位(46,XY,inv(1)(p22q42))中的应用
Mol Hum Reprod. 2007 Jan;13(1):55-9. doi: 10.1093/molehr/gal094. Epub 2006 Oct 31.
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Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Aug;23(4):431-3.
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Sperm chromosome analysis in two cases of paracentric inversion.两例臂间倒位的精子染色体分析
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Differing mechanisms of meiotic segregation in spermatozoa from three carriers of a pericentric inversion of chromosome 8.来自三名8号染色体臂间倒位携带者精子减数分裂分离的不同机制。
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