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双语推荐：X染色体

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目的对双亲缺失的姐妹进行同胞鉴定。方法采用chelex-100法提取血液DNA,通过检测常染色体短串联重复序列(short tandem repeat,STR)位点、X染色体STR位点和线粒体单核苷酸多态性(single nucleotide polymorphism,SNP)进行基因分型,分型结果通过判别函数、ITO法、X染色体STR位点和线粒体SNP分析的方法进行同胞关系判定。结果 39个常染色体等位基因位点的共享基因数为27个,用辨别函数判别归于无关个体;用ITO法计算亲缘关系系数(FSI)为6.95003×10~(-44),判别为无关个体;12个X染色体STR等位基因位点中,有3个X染色体STR位点不匹配,排除姐妹俩来自同一父亲;线粒体SNP的检测显有3个基因座不同,两人来源于不同母系。结论通过联合利用常染色体STR、X染色体STR和线粒体SNP检测技术进行确认两人不是同胞姐妹关系。
Objective To carry out a sibling identification on the orphaned sisters. Methods Genomic DNA of two ladies were extracted by using chelex-100 method. Genotyping was performed by detecting STRs loci on autosome, STR loci on X-chromosome and mitochondrial-SNP loci. Then the data were analyzed by discriminant function analysis , ITO method , X-STR analysis and mitochondrial-SNP analysis to identify the sibling relation of the orphaned sisters. Results There were 27 shared loci among 39 STRs loci on the autosome , which were considered as unrelated individuals based on discriminant function analysis and ITO method. 3 inconsistent loci were detected among 12 X-STR loci , which implied that the two sisters didn’t have a biological father. 3 inconsistent loci were detected among 49 mitochondrial-SNP loci, which suggested that they didn’t have a biological mother. Conclusion The joint use of the technology of autosome STR , X-chromosome STR and mitochondrial-SNP determined that two

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目的 对3例畸变Y染色体进行定位分析并确定其重组形式.方法 采用染色体G显带、多重连接依赖探针扩增(multiplex ligation dependent probe amplification,MLPA)、荧光原位杂交(fluorescence in situ hybridization,FISH)、Y染色体多个序列标签位点(sequence tagged site,STS)及Illumina人类全基因组单核苷酸多态性芯片扫描(single nucleotide polymorphisms array,SNP-array)等多种技术.结果 3例患者染色体G显带核型均为46,X,+ mar.MLPA检测发现例1 SRY、ZFY、UTY基因重复；例2 SRY、ZFY基因重复、UTY基因缺失；例3X染色体短臂/Y染色体短臂(X/Yp)、X染色体长臂/Y染色体长臂(X/Yq)亚端粒区域基因拷贝数减少.Y染色体STS分析提示:例1的SRY及Y染色体AZFa区sY84、sY86、AZFb区sY1227存在,但sY1228及AZFc区多个STS缺失,断裂点位于AZFb区sY1227和sY1228之间；例2的SRY及着丝粒区域sY1200存在,其余STS均缺失；例3的SRY及AZF多个STS均存在.SNP-array扫描提示,例1 Yp11.31-p11.2区重复,Yq11.22-q11.23区缺失,缺失片段约为5.18 Mb;例2 Yp11.31-p11.2区重复,重复片段为3.724 Mb,Yq11.21-q11.23区域缺失,缺失约14.644Mb;例3 X/Yp亚端粒区域(PAR) p22.33单拷贝缺失,X/Yq亚端粒区域(PAR) q28单拷贝缺失.FISH分析提示,例1和例2细胞中期原位杂交核型均为46,X,+ mar.ish(Y)(SRY++,DYZ3++,DYZ1-).综合分析:例1和例2的标记染色体均为短臂等臂双着丝粒Y染色体.分子核型:例1为46,X,idic (Y)(q11.23)；例2为46,X,idic(Y) (q10)；例3为标记染色体为环状Y,核型为46,X,r(Y)(p1 1q12).结论 Y染色体畸变形式多样,选用MLPA、Y染色体STS、FISH、SNP-array等多项技术联合诊断是确定其断裂点及重组形式的重要手段.
Objective To delineate the structure of Y chromosome aberrations and recombinant mechanisms for three patients.Methods Karyotype analysis,multiplex ligation dependent probe amplification (MLPA),fluorescence in situ hybridization (FISH),Y chromosome sequence tagged sites (STS) analysis,human whole genome-wide SNP array were used.Results The karyotypes of the three patients were 46,X,+mar.As suggested by MLPA analysis,case 1 has increased copy numbers of SRY,ZFY and UTY genes,case 2 had increased copies of SRY and ZFY genes,and deletion of UTY gene,and case 3 had decreased copies for subtelomeric regions of X/Yp and X/Yq.By STSs analysis,case 1 has retained SRY,sY84 and sY86 in the AZFa region,sY1227 in the AZFb region,whilst lost sY1228 in the AZFb region and other STSs in the AZFc region.Its breakpoint was thereby mapped between sY1227 and sY1228.Case 2 has retained SRY and sY1200 in the centromeric region,whilst has deletion of other STSs.Case 3 has retained SRY and STSs in the AZF re

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摘要：应用改进的染色体制片方法研究新疆2种石竹属植物的核型，探讨其核型差异。结果表明：多分枝石竹的细胞染色体数为2n=50，其中中部着丝点染色体（m）为11对，近中部着丝点染色体（sm）为4对，核型为2A型，核型公式为2n=2x=50=22m＋Ssm准噶尔石竹的细胞染色体数为2n=30，其中中部着丝点染色体（m）为9对，近中部着丝点染色体（sm）为6对，核型为2A型，核型公式为2n=2x=28=f8m＋12sm。2种石竹属植物染色体相对长度、m、sm染色体的数量组成、核型不对称系数（AS．K％）及最长与最短染色体的比值均存在明显差异。
Using an improved chromosome preparation method, the differences of the karyotypes within two species of Dianthus from Xinjiang was studied. The karyotype formulae of D. ramosissimus was 2n=2x=30=22m+8sm. Among them 22 pairs are metacentric(m), and 8 pairs are submetacentric (sm). That of D. soongoricus was 2n=2x=30=18m+12sm. Among them 18 pairs are metacentric(m), and 12 pairs are submetacentric (sm). The karyotypes of two cultivars all belong to 2A type in karyotypic classification. There are significant differences in relative length of chromosome, AS.K% and the ratio of the longest to the shortest chromosome between D. ramosissimus and D. soongoricus.

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Y染色体在演化进程中丢失了大量基因,不过这种丢失基因的过程在大约250万年前就已停止,留下不到100种稳定的祖先基因.4月24日出版的英国《自然》杂志上发表了两篇遗传学研究文章,对Y染色体的演化和功能提出了新的见解.这两篇文章共同指出,被精心保留下来的基因是由于剂量原因能保持功能稳定,且与一些其他基因的表达关系密切. Y染色体是大多数哺乳动物(包括人类)的两条性染色体之一,雄性所具有而雌性没有的那条性染色体即是Y染色体.但不同于与它同源的X染色体,人类Y染色体上的基因,在其数百万年的演变过程中越来越少,只保留了祖先基因的百分之三,而X染色体在进化历程中却几乎保有了全部2000种基因.
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目的：应用染色体核型分析和荧光原位杂交（ FISH）技术对2708例孕妇的羊水细胞进行检测，探讨两种方法用于产前诊断的临床意义。方法：对2708例有产前诊断指征的孕妇行羊膜腔穿刺术，获得羊水细胞分别进行细胞培养、染色体核型分析及FISH检测（ FISH选取13、18、21、X、Y五条染色体特异性探针杂交）。结果：2708例羊水细胞染色体核型分析培养失败3例，成功率99．9％。2705例培养成功样本中检出染色体多态39例（1．4％）；检出染色体异常核型105例（3．9％），其中染色体非整倍体异常82例，染色体结构异常23例。 FISH检测成功率100％。共检出13、18、21、X、Y染色体非整倍体异常82例，性染色体嵌合2例，与染色体核型分析结果相符，1例嵌合型20号染色体三体未能检出，染色体结构异常及多态性均未检出。结论：染色体核型分析可检出全部染色体数目及结构异常，但对孕周要求较为严格、需要样本量大、诊断周期长、易培养失败、分辨率有限；FISH技术对孕周无严格要求，需要样本量小，可直接对未培养羊水细胞进行检测，快速、简便，但目前仅能检出有限的几条染色体数目异常，尚不能检出染色体平衡性结构改变如平衡易位、倒位、染色体多态等。
Aim:To evaluate the prenatal diagnosis value of chromosomal karyotyping analysis and fluorescence in situ hybridization(FISH) performed to detect the amniotic fluid cells from 2 708 cases.Methods:Amniocentesis, amniotic flu-id cell culture , chromosomal karyotype analysis and FISH detection were carried out in 2 708 cases of pregnancy women with prenatal diagnosis indication .Five chromosome-specific probes(chromosome 13, 18, 21, X, Y) were used in inter-phase FISH.Results:The success rate of chromosomal karyotype analysis was 99.9%(2 705/2 708) and 3 failed in am-niotic cell culture.Among the 2 705 cases,39 cases(1.4%) of chromosomal polymorphism were identified ,and 105 cases (3.9%) of chromosomal abnormalities were identified .Among all of the disorders, we found 82 cases of chromosomal ane-uploid abnormalities and 23 cases of structural abnormalities .The success rate of FISH was 100%.A total of 82 cases of chromosome abnormalities were detected by FISH , which were consi

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目的：探讨多重定量荧光PCR（quantitative fluorescent PCR，QF-PCR）技术在21-三体综合征、克氏综合征等染色体多倍体遗传病进行快速的诊断。方法21、X、Y染色体数目异常疑似患者外周静脉血76份。针对21号染色体和X、Y染色体上7个多态性短串联重复序列（ STR）位点21S1435、D21S11、D21S1411、AMXY、DXS981、DXS6809、X22应用QF-PCR方法进行多重扩增，使用毛细管电泳法进行产物分析。同时进行染色体核型分析。结果染色体核型分析中62例21-三体综合征，9例克氏综合征，5例正常。 QF-PCR结果与核型分析结果一致。结论 QF-PCR技术可用于21-三体综合征和克氏综合症等染色体多倍体遗传病的快速诊断。
Objective To evaluate multiple fluorescence quantitative PCR ( quantitative fluorescent PCR, QF-PCR ) for rapid diagnosis technique in Trisomy 21 syndrome, Klinefelter syndrome and other chromosome Polyploidy Genetic disease .Methods 21,X,Y chromosome abnormality in patients with suspected peripheral venous blood in 76 copies.On chromosome 21 and X,Y chromosome polymorphism of 7 short tandem repeat (STR) loci21S1435, D21S11, D21S1411, AMXY, DXS981, DXS6809, X22 and the QF-PCR method were used to multiplex amplification , the products were analyzed by capillary electrophoresis .At the same time, karyotype analysis .Results Karyotype analysis of 62 cases of Trisomy 21 syndrome , 9 cases of Klinefelter syndrome, and 5 cases of normal.The results ofkaryotype analysis results were consistent with QF-PCR. Conclusions QF-PCR technology can be used for rapid diagnosis of Trisomy 21 syndrome and Klinefelter syndrome and other chromosome Polyploidy Genetic disease .

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采用耳组织成纤维细胞培养方法及常规染色体标本制备技术,对阿巴嘎黑马的染色体核型及G带进行了分析。结果显示,阿巴嘎黑马染色体数目为2n=64,雄性核型为64,XY;雌性核型为64,XX。其中1～13号染色体为中或亚中着丝粒染色体,14～31号染色体为端着丝粒染色体,X染色体则为2对大亚中着丝粒染色体,Y染色体为最小的端着丝粒染色体。另外,阿巴嘎黑马染色体G带明暗相间,且每对染色体都有其独特的带纹特征,其中部分染色体的G带与已报道的阿拉伯马的G带特征有明显差异。本研究首次在国内报道了阿巴嘎黑马染色体核型及G带特征,这将为阿巴嘎黑马的细胞遗传学研究和疾病诊断提供资料。
In this paper ,chromosomal karyotype of Abaga horse was studied by using the fibroblast cells culture method and conventional chromosome analysis techniques .The karyotyping of Abaga horse has been analyzed by standard and G-banding technique .The results showed that the diploid chromosome number of Abaga horse was 2n=64.The chromosome karyotypes of male and female horse were 64,XY and 64,XX.The chromosome 1-13 is metacentric-submetacentric autosome;chromosome 14 -31 is acrocentric autosome .Chromosome X is the second longest submetacentric chromosome and Y is the smallest acrocentric chromosome .Moreover , each chromosome of Abaga horse has some unique patterns of its bands ,and there are some differences with the reported Araba horse . This is the first report of G-banding karyotype of Abaga horse in China .The karyotype generated in this study will provide the fundamental information for equine cytogenetics and diagnosis of genetic disease in Arab horses .

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XY性染色体决定系统是决定植物性别的主要方式，但是对于其起源与演化机制却知之甚少。目前认为，携带控制雌蕊或雄蕊发育基因的一对常染色体由于某种未知原因的突变形成早期的neo-Y或neo-X性染色体，随着演化的进行，早期XY性染色体之间的重组逐渐受到抑制，非重组区域扩展最终形成异型的性染色体。研究发现，重复序列的累积以及DNA甲基化等因素都可能参与了XY性染色体的异染色质化、重组抑制及Y染色体体积增大过程。转座子作为一种基因组中含量最高的重复序列在性染色体演化中扮演了重要的角色，包括性染色体演化的起始激发，以及导致性染色体局部表观遗传修饰使其发生异染色质化扩展和重组抑制。文章综述了转座子在植物性染色体上的累积及其与性染色体异染色质化之间的关系，并简要分析了转座子在性染色体演化过程中的作用。
The XY sex-determination system is crucial for plant reproduction. However, little is known about the mechanism of the origin and evolution of the XY sex chromosomes. It has been believed that a pair of autosomes is evolved to produce young sex chromosomes (neo-X chromosome and neo-Y chromosome) by loss of function or gain of function mutation, which influences the development of pistil or stamen. With the aggravation of the recombina-tion suppression between neo-X and neo-Y and consequent expanding of the non-recombination region, the pro-to-sex chromosomes were finally developed to heteromorphic sex chromosomes. Accumulation of repetitive se-quences and DNA methylation were probably involved in this process. Transposons, as the most abundant repetitive sequences in the genome, might be the initial motivation factors for the evolution of sex chromosome. Moreover, transposons may also increase heterochromatin expansion and recombination suppression of sex chromosome by local

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目的 探讨Y染色体异常及AZF微缺失与男性生殖异常的关系.方法 病例对照研究.收集2007年4月至2011年4月因生殖异常到吉林省生殖医学研究所临床基地及吉林大学临床医院就诊的2694例男性患者(23～49岁),其中生精障碍组1332例、配偶不良妊娠组994例、不良生育组368例.G显带技术分析患者外周血染色体核型,PCR方法对检出的Y染色体异常患者行AZF微缺失检测.x2检验比较Y染色体异常在3组生殖异常中的发生率.结果 检出Y染色体异常51例(1.89％,51/2694):其中生精障碍组32例(2.40％,32/1332)、配偶不良妊娠组15例(1.51％,15/994)、不良生育组4例(1.09％,4/368).x2检验比较Y染色体异常在3组之间的发生率,差异均无统计学意义(x2 =3.895,P ＞0.05).51例Y染色体异常患者中检出AZF微缺失10例(19.61％,10/51),均为生精障碍患者.结论 Y染色体异常在3组生殖异常中的发生率相近.对生殖异常男性行外周血染色体检查和AZF微缺失检测有助于明确其遗传学病因.
Objective To study the relationship between Y chromosome abnormalities and AZF microdeletions in males with reproductive failure.Methods A case-control study was conducted in 2694 reproductive failure men with age ranges from 23 to 49 years old from the Institute of Reproductive Medicine of Jilin Province.Patients were divided into three groups:spermatogenic failure group (n =1332),disadvantage pregnancy outcomes group (n =994) and adverse birth outcomes group.All patients underwent chromosomal karyotype analysis (G-banding).AZF microdeletions were further investigated in patients with Y chromosomal abnormalities by PCR.The Chi-square test was used to compare the frequency of Y chromosome abnormalities in three groups.Results Of the 51 cases of Y chromosome abnormalities (1.89％,51/2694),32 were (2.40％,32/1332) in the spermatogenic failure group,15 were (1.51％,15/994) in disadvantage pregnancy outcomes group and 4 were (1.09％,4/368) in adverse birth outcomes group.There wa

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性染色体病是由于X和Y染色体先天性数目异常或结构畸变所引起的疾病。其共同临床特征是性发育不全或两性畸形，有的患者仅表现生殖力下降、继发性闭经、智力稍差、行为异常等。我们在工作中遇到一例罕见的性染色体异常病例。
The disease is due to abnormal sex chromosome X and Y chromosome number or congenital structural distortion caused by the disease.The common clinical features of dysplasia or hermaphroditism,some patients showed only fertility decline,secondary amenorrhea,slightly lower intel igence,behavioral abnormalities.We encountered a rare case of sex chromosome abnormalities in cases of work.

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