目的探讨Y染色体臂问倒位的遗传学效应。方法外周血淋巴细胞培养G显带核型分析及多重PCR方法扩增与不育最相关的18个Y染色体长臂连锁的非多态短DNA片断(分别位于AZF的几个亚区)。结果在两例Y染色体臂间倒位患者中未发现有A Z F区的微缺...目的探讨Y染色体臂问倒位的遗传学效应。方法外周血淋巴细胞培养G显带核型分析及多重PCR方法扩增与不育最相关的18个Y染色体长臂连锁的非多态短DNA片断(分别位于AZF的几个亚区)。结果在两例Y染色体臂间倒位患者中未发现有A Z F区的微缺失。结论发生在人类的inv(Y)和其它物种(如灵长类)一样是一种多态性,通常不具有病理意义。展开更多
目的:探讨用精子荧光原位杂交(fluorescence in situ hybridization,FISH)分析男性染色体臂间倒位携带者的减数分裂结果。方法:对4例男性染色体臂间倒位携带者的精子通过化学方法解聚,利用双色FISH,分析精子染色体组成并推断其分离类型...目的:探讨用精子荧光原位杂交(fluorescence in situ hybridization,FISH)分析男性染色体臂间倒位携带者的减数分裂结果。方法:对4例男性染色体臂间倒位携带者的精子通过化学方法解聚,利用双色FISH,分析精子染色体组成并推断其分离类型。结果:4例染色体臂间倒位携带者中2例为46,XY,inv(9)(p11q12),1例为46,XY,inv(9)(p11q13),1例为46,XY,inv(6)(p22q24),其倒位片段长度分别占整条染色体的16.0%、16.0%、21.0%和76.0%,其重组精子分别为0.2%、0.4%、0.3%和43.9%(del(p)/dup(q)占22.4﹪,del(q)/dup(p)占21.5﹪)。结论:染色体臂间倒位携带者减数分裂的重组发生跟倒位片段占整条染色体长度比例有关。FISH分析可了解重组后染色体不平衡精子的比率,有助于提供更准确的遗传咨询。展开更多
Objective To examine the relationship between spontaneous abortion and chromosomal abnormalities.Methods Couples who had one or more consecutive spontaneous abortions and had normal genitals were enrolled for cytoge...Objective To examine the relationship between spontaneous abortion and chromosomal abnormalities.Methods Couples who had one or more consecutive spontaneous abortions and had normal genitals were enrolled for cytogenetic karyotype analysis. Results In the 61 couples, the detected incidence was 11.5%, with five Robertsonian translocations, one reciprocal translocation, and one pericentric inversion of chromosome 7. Conclusion Chromosomal abnormalities may play an important role in fetal wastage.展开更多
Gibbons and siamangs （Hylobatidae） are well-known for their rapid chromosomal evolution,which has resulted in high speciation rate within the family.On the other hand,distinct karyotypes do not prevent speciation,al...Gibbons and siamangs （Hylobatidae） are well-known for their rapid chromosomal evolution,which has resulted in high speciation rate within the family.On the other hand,distinct karyotypes do not prevent speciation,allowing interbreeding between individuals in captivity,and the unwanted hybrids are ethically problematic as all gibbon species are endangered or critically endangered.Thus,accurate species identification is crucial for captive breeding,particularly in China where studbooks are unavailable.Identification based on external morphology is difficult,especially for hybrids,because species are usually similar in appearance.In this study,we employed G-banding karyotyping and fluorescence in situ hybridization （FISH） as well as a PCR-based approach to examine karyotypic characteristics and identify crested gibbons of the genus Nomascus from zoos and nature reserves in China.We characterized and identified five karyotypes from 21 individuals of Nomascus.Using karyotypes and mitochondrial and nuclear genes,we identified three purebred species and three hybrids,including one F2 hybrid between N.gabriellae and N.siki.Our results also supported that N.leucogenys and N.siki shared the same inversion on chromosome 7,which resolves arguments from previous studies.Our results demonstrated that both karyotyping and DNA-based approaches were suitable for identifying purebred species,though neither was ideal for hybrid identification.The advantages and disadvantages of both approaches are discussed.Our results further highlight the importance of animal ethics and welfare,which are critical for endangered species in captivity.展开更多
文摘目的探讨Y染色体臂问倒位的遗传学效应。方法外周血淋巴细胞培养G显带核型分析及多重PCR方法扩增与不育最相关的18个Y染色体长臂连锁的非多态短DNA片断(分别位于AZF的几个亚区)。结果在两例Y染色体臂间倒位患者中未发现有A Z F区的微缺失。结论发生在人类的inv(Y)和其它物种(如灵长类)一样是一种多态性,通常不具有病理意义。
文摘目的:探讨用精子荧光原位杂交(fluorescence in situ hybridization,FISH)分析男性染色体臂间倒位携带者的减数分裂结果。方法:对4例男性染色体臂间倒位携带者的精子通过化学方法解聚,利用双色FISH,分析精子染色体组成并推断其分离类型。结果:4例染色体臂间倒位携带者中2例为46,XY,inv(9)(p11q12),1例为46,XY,inv(9)(p11q13),1例为46,XY,inv(6)(p22q24),其倒位片段长度分别占整条染色体的16.0%、16.0%、21.0%和76.0%,其重组精子分别为0.2%、0.4%、0.3%和43.9%(del(p)/dup(q)占22.4﹪,del(q)/dup(p)占21.5﹪)。结论:染色体臂间倒位携带者减数分裂的重组发生跟倒位片段占整条染色体长度比例有关。FISH分析可了解重组后染色体不平衡精子的比率,有助于提供更准确的遗传咨询。
文摘Objective To examine the relationship between spontaneous abortion and chromosomal abnormalities.Methods Couples who had one or more consecutive spontaneous abortions and had normal genitals were enrolled for cytogenetic karyotype analysis. Results In the 61 couples, the detected incidence was 11.5%, with five Robertsonian translocations, one reciprocal translocation, and one pericentric inversion of chromosome 7. Conclusion Chromosomal abnormalities may play an important role in fetal wastage.
基金supported by the Wildlife Conservation Program of Yunnan Province,ChinaK.H. was supported by a JSPS Postdoctoral Fellowship for Overseas Researchers(P16092)
文摘Gibbons and siamangs （Hylobatidae） are well-known for their rapid chromosomal evolution,which has resulted in high speciation rate within the family.On the other hand,distinct karyotypes do not prevent speciation,allowing interbreeding between individuals in captivity,and the unwanted hybrids are ethically problematic as all gibbon species are endangered or critically endangered.Thus,accurate species identification is crucial for captive breeding,particularly in China where studbooks are unavailable.Identification based on external morphology is difficult,especially for hybrids,because species are usually similar in appearance.In this study,we employed G-banding karyotyping and fluorescence in situ hybridization （FISH） as well as a PCR-based approach to examine karyotypic characteristics and identify crested gibbons of the genus Nomascus from zoos and nature reserves in China.We characterized and identified five karyotypes from 21 individuals of Nomascus.Using karyotypes and mitochondrial and nuclear genes,we identified three purebred species and three hybrids,including one F2 hybrid between N.gabriellae and N.siki.Our results also supported that N.leucogenys and N.siki shared the same inversion on chromosome 7,which resolves arguments from previous studies.Our results demonstrated that both karyotyping and DNA-based approaches were suitable for identifying purebred species,though neither was ideal for hybrid identification.The advantages and disadvantages of both approaches are discussed.Our results further highlight the importance of animal ethics and welfare,which are critical for endangered species in captivity.
