9种新的人类染色体异常核型报告

发现９种新的人类染色体异常核型,分别为：４６,ＸＸ,ｔ（２;１０）（ｑ３３;ｑ１１）;４６,ＸＹ,ｔ（１０;１２）（ｑ２６;ｑ２２）;４６,ＸＹ,ｔ（６;１５）（ｐ２３;ｑ２３）;４６,ＸＹ,ｔ（１;６）（ｐ３６;ｑ２１）;４６,ＸＹ,ｔ（１;１９）（ｐ３２;ｐ１３）;４６,ＸＹ,ｔ（１６;１８）（ｑ２２;ｑ２１）;４６,ＸＹ,ｉｎｖ（１）（ｐ３６ｑ２５）;４６,ＸＹ,ｔ（１３;１７）（ｑ１２;ｑ２５）;４６,ＸＹ,ｔ（１５;２１）（ｑ２６;ｑ１１）。异常核型是导致自然流产和不育的原因。     

16种罕见的人类染色体异常核型报告

通过对患有闭经、自发流产、死胎、死产等患者外周血淋巴细胞染色体检查,发现16种新的罕见人类染色体异常核型,它们是46,XY,t(6;11)(q25;p15);46,XY,inv(3)(p25;q29);46,XY,t(7;18)(q10;p10);46,X,t(X;13)(q24;q14);46,XY,t(4;7)(q33;q22);46,XY,t(8;15)(q24;q15);46,XY,t(2;17)(q33;q25);46,XX,t(4;7)(q34;q11);46,XX,t(1;3)(p36;p23);46,XX,t(4;6)(q35;p11);46,X,inv(X)(q22;q28);46,XX,t(7;10)(p11;q26);46,XX,t(3;6)(p21;q23);46,XX,t(8;16)(p21;p13);46,XX,t(8;9)(q21;q34);46,XY,t(17;22)(q21;q11)。描述了患者的临床表现,并对生殖异常患者染色体畸变与其表型效应关系进行探讨。Abstract：By examining the lymphocytic chromosomes of peripheral blood from patients with amenorrhea,spontaneous abortion and stillbirth history, .the 16 rare species of human chromosomal abnormal karyotypes were discovered. They wre 46,XY,t(6;11)(q25;p15);46,XY,inv(3)(p25;q29);46,XY,t(7;18)(q10;p10);46,X,t(X;13)(q24;q14);46,XY,t(4;7)(q33;q22);46,XY,t(8;15)(q24;q15);46,XY,t(2;17)(q33;q25);46,XX,t(4;7)(q34;q11);46,XX,t(1;3)(p36;p23);46,XX,t(4;6)(q35;p11);46,X,inv(X)(q22;q28);46,XX,t(7;10)(p11;q26);46,XX,t(3;6)(p21;q23);46,XX,t(8;16)(p21;p13);46,XX,t(8;9)(q21;q34);46,XY,t(17;22)(q21;q11). Their clinical situation were described. Discussion on the relationship between the chromosomal aberrations and phenotype effect indicates the importance of chromosome karyotyping in patients with abnormal reproductive history.     

三种螽斯科昆虫的核型研究

本文首次报道中国螽斯科3种昆虫的染色体核型,结果表明:中华螽斯Tettigonia chinensis 2n♂=31均为近端着丝粒染色体,暗褐蝈螽Gampsocleis obscura 2n♂=31也均为近端着丝粒染色体,中华寰螽Atlanticus sinensis 2n♂=29第1对染色体为中部着丝粒染色体,其余为近端部着丝粒染色体。这3 种螽斯的性别决定机制均为XO♂/XX♀型。 Abstract:The karyotypes of three species belonging to three genera of Tettigoniidae were investigated.The diploid number of chromosomes for Tettigonia chinensis is 2n♂=31,for Gampsocleis obscura 2n♂=31,Atlanticus sinensis 2n♂=29.In the three species,the XO♂/XX♀type of sex determination was observed.     

9号染色体臂间倒位21例分析

在2 703例遗传咨询门诊病例中检出9号染色体臂间倒位21例,将本组inv(9)的频率与普通群体inv(9)的频率作比较,并通过对伴有其它性状的inv(9)家系的分析,讨论了inv(9)的遗传效应问题。 Abstract:　Twenty one cases of pericentric inversion of chromosome 9 were found in 2703 patients asking genetic counseling. The percentage of inv(9) in this group was compared with that in normal population. Two special pedigrees with inv(9) were analyzed and the genetic effects of inv(9) were discussed.     

9例罕见异常染色体新核型

我科于1985年10月一1987年10月期间 共发现9例世界首报新核型,其中从流产、早产 病人中检出斗例,闭经病人中检出3例,从阵发 性睡眠性血红蛋白尿（简称PNH）和无精症的 病人中各检出1例。现分别报告如下：     

Y染色体异常29例分析

本文从1992例遗传咨询病例中收集29例Y染色体异常的病例,其中Y染色体数 目异常(47,XYY)2例;Y染色体结构异常8例:Y/Y易位1例、Yp+3例、de l(Y)3例、嵌合 体dic(Y)1例;Y染色体长度变异19例。对Y染色体这几种异常类型的遗传效应进行分析。 Abstract:Twenty nine cases of Y chromosome abnormalities were found in 1992 patients asking genetic counseling.Different kinds of Y chromosome abnormalitics were detected by G and banding techniques.These were 47,XYY(2 cascs);46,X,del(Y)(3 cascs);46,X,Yp+(3 cases);46,X,t(Y;Y)(1 case);45,X/46,X,dic(Y)(1 case) and length changes of Y chromosome(19 cases).The genetic effects of Y chromosome abnormalities have been analyzed in this report.     

5774例临床生育不良者异常染色体核型分析及32种人类染色体新核型报告

为了探讨异常染色体核型在临床生育不良人群中的分布及其与临床生育结局的关系, 采用常规方法制备外周血淋巴细胞染色体, 经G显带, 对 5 774例临床生育不良者做了外周血染色体核型分析, 检查出异常核型550 例。其中三体核型 255 例占 46.36％, 相互易位 91 例占 16.55％, 染色体倒位 85 例占 15.45％, 染色体缺失 81 例占 14.73％, 罗伯逊易位21例占3.82%, 短臂增加7例占1.27%, 大丫6例占1.09%, 随体异常4例占0.73%。其中 32 例为首次报道的新核型。其临床结局有流产、不育、先天畸形等。结果表明携带异常核型染色体, 可能是影响生育的重要原因之一。     

羊驼染色体核型及其G分带的研究

为了从选种、杂交改良、疾病诊断以及性别决定的遗传机制等方面为羊驼的繁育与推广提供更为有效的细胞遗传学资料,本试验采用外周血淋巴细胞培养法及胰酶-EDTA法分析了23只胡阿基亚型羊驼（Huacaya alpaca,雌20只,雄3只）的染色体核型及其G-分带,结果表明：羊驼二倍体染色体数目为2n=74,雄性羊驼核型为74,XY;雌性羊驼核型为74,XX。其中,1～20对常染色体为亚端着丝粒染色体,21～36对常染色体为亚中着丝粒染色体和中着丝粒染色体,X为中着丝粒染色体,Y为端着丝粒染色体。G-带分析表明,羊驼G带明暗相间,显现出不同的带纹,且羊驼每对染色体都有其独特的带纹特征,其带纹数目和精细程度随着染色体长度的增加而增加。Abstract: Blood samples from 23 Huacaya alpacas, 3 males and 20 females, were used to study chromosomes and karyotypes, so as to provide some effective cytogenetic bases for the selection, improvement by crossing, disease diagnosis of alpacas, and genetic mechanisms of sex determination. Peripheral blood lymphocyte culture was used to prepare chromosome. A method of trypase-EDTA was used for G-banding. The results showed as follows: The number of diploid chromosomes was 2n=74, with the karyotype 74, XY and 74, XX for males and females respectively. Thirty-six homologous pairs of chromosomes were autosomes, in which chromosomes pairs No.1 to No.20 were acrocentric-subterminal and No.21 to No.36 metacentric-submetacentric. And X chromosome was metacentric, Y chromosome telocentric. The analysis of G-bands showed that bright and dark bands appeared by turn. It showed different bands. And every pair of chromosomes had its distinct band, and the longer the chromosomes, the more the number of bands, and the more clear the bands.     

反复自然流产夫妇染色体核型分析

目的:通过对反复自然流产夫妇的染色体核型进行分析,探讨反复自然流产与染色体核型异常的关系。方法:对1018对诊断为反复自然流产的夫妇,采集肘静脉血液,常规外周血细胞培养和染色体标本制备,行染色体核型分析。结果:1018对反复自然流产患者中,染色体异常者129例,占受检夫妇的12.67%。其中,平衡易位24例;罗伯逊易位12例;染色体多态80例;倒位11例;重复2例。结论:染色体核型异常是造成流产、死胎的重要因素之一,对反复自然流产患者进行细胞遗传学检查具有重要意义。     

露螽科四种昆虫的核型研究

本文以螽斯精巢为实验材料,经过低渗、固定、压片、空气干燥、Giemsa染色制备染色体标本,对螽斯总科露螽科4种螽斯的核型进行了研究,结果Phaneroptera falcata 2n♂=27, Phaneroptera gracilis 2n♂=25,Ducetia japonica 2n♂=29,Isopsera sp.2n♂=31,均为近端着丝粒染色体,性别决定机制均为XO♂/XX♀型, X染色体为染色体组中最大的染色体。作者认为,Isopsera sp.（2n♂=31）可能是露螽科中较原始的种类,Ducetia japonica(2n♂=29),Phaneroptera falcata (2n♂=27),Phaneroptera gracilis (2n♂=25)可能是由2n♂=31进化来的衔接融合在露螽科染色体进化中起着重要作用。 Abstract：Karyotypes of four species belonging to three genera of the Phaneropteridae were investigated.The diploid number of chromosomes is as follows: Phaneroptera falcata species 2n♂=27(XO),Phaneroptera gracilis 2n♂ =25 (XO),Ducetia japonica 2n =29 (XO) and Isopsera sp.2n♂=31(XO) ,all chromosomes are acrocentric,the X chromosomes are the largest members of the sets.It may be assumed that Isopsera sp. 2n♂=31 represents the basic number of chromosomes.The other species,Ducetia japonica 2n♂=29, Phaneroptera falcata 2n♂=27, Ph.gracilis 2n♂=25 could originate 2n♂=31 .Tandem fusions may be important in the karyotype evolution of Phaneropteridae.     

九种罕见的人类染色体异常核型报告

ReportonNineRareSpeciesofHumanChromosomalAbnormalKaryotypesHanWeitian;QuOu;YuPing;JiangMiao(LiaoningResearchInstituteofFamilyPlanning,Shenyang110031)自1983年以来,我们对数千例不育及胚胎丢失等生殖异常患者进行细胞遗传学研究,发现大量异常染色体核型,而且异常种类繁多,已报道世界首报人类异常核型25种[1]。最近,在不良妊娠患者中又发现9种异常核型,经湖南医科大学医学细胞遗传学国家培训中心鉴定,为世界首次报道．现报告如下。1病例摘要及核型例1男,30岁,表型及智力正常,其妻子妊娠两次,均在无任何诱因情…     

罕见的异常核型6例报告

ReportofSixRareCasesofAbnormalKaryotypesLiGuixinSongGuangjiangSongXingjun(BiologyDepartment,TaishanMedicalCollege,Taiah,Shandong271000)我定在对外遗传咨询并进行染色体检查时,发现6例异常核型,经医学细胞遗传学国家培训中心夏家辉等专家鉴定,为世界首报枝型．现报告如下：例1女,26岁,表型正常．妊娠4次,均于3个月自然流产．无任何诱因．常规染色体检查,核型为46,XX但有两条异常染色体．经G显带分析,异常核型为46,XX,t（1;8）（lqter-1p32：：8q22-8qter;8pier-8q22：：1p32－1pter）（图1）．例2女,25岁…     

九种二变种山茶属植物的核型报道

本文报道了９种２变山茶属植物的核型．结果如下：Ｃａｍｅｌｉａｈｅｎｒｙａｎａ：２ｎ＝２ｘ＝３０＝２１ｍ＋８ｓｍ＋１ｓｔ;Ｃ．ｆｕｒｆｕｒａｃｅａ：２ｎ＝２ｘ＝３０＝２０ｍ＋１０ｓｍ;Ｃ．ｗａｒｄｉ：２ｎ＝２ｘ＝３０＝１８ｍ＋１１ｍ＋１ｓｔ;Ｃ．ａｎｌｕｎｇｅｎｓｉｓ：２ｎ＝２ｘ＝３０＝１９ｍ＋９ｓｍ＋２ｓｔ;Ｃ．ａｎｌｕｎｇｅｎｓｉｓｖａｒ．ａｃｕｔｉｐｅｒｕｌａｔａ：２ｎ＝２ｘ＝３０＝１９ｍ＋９ｓｍ＋２ｓｔ;Ｃ．ｐｙｘｉｄｉａｃｅａ：２ｎ＝２ｘ＝３０＝２０ｍ＋８ｓｍ＋２ｓｔ;Ｃ．ｐｙｘｉｄｉａｃｅａｖａｒ．ｒｕｂｉｔｕｂｅｒｃｕｌａｔａ：２ｎ＝２ｘ＝３０＝２１ｍ＋８ｓｍ＋１ｓｔ;Ｃ．ｂｒｅｖｉｓｔｙｌａ：２ｎ＝２ｘ＝３０＝１８ｍ＋１０ｓｍ＋２ｓｔ;Ｃ．ｌｅｐｔｏｐｈｙｌａ：２ｎ＝２ｘ＝３０＝２４ｍ（１ｓａｔ）＋４ｓｍ（１ｓａｔ）＋２ｓｔ;Ｃ．ｙｕｎｎａｎｅｎｓｉｓ：２ｎ＝２ｘ＝３０＝１８ｍ＋１０ｓｍ＋２ｓｔ;Ｃ．ｐｉｔａｒｄｉ：２ｎ＝２ｘ＝３０＝１８ｍ＋１２ｓｍ．其中,前７种２变种的核型为首次报道,比较前人的有关研究可以看出上述核型在种间较相似,以组为单位进行比较比种间比较具有更大的意义。     

建立人类异常染色体核型的成纤维细胞系及滋养层细胞系

从自然流产绒毛或者中期妊娠羊水中分离细胞体外培养, 建立人类异常染色体核型成纤维细胞系及滋养层细胞系.中期妊娠羊水染色体诊断或自然流产绒毛染色体诊断过程中, 行G显带细胞核型分型, 对于发现异常核型的细胞, 进行分离、培养、传代、冻存、复苏及鉴定, 建立细胞系, 用PowerPlex 16系统行DNA-STR基因型检测.建立1株来自羊水的21三体成纤维细胞系, 以及7株来自绒毛的滋养层细胞系, 核型分别为47, XX 21; 69, XXX; 69, XXY; 47, XY 12; 47, XX 5; 48, XY 21, 22; 47, XY 18.所有细胞系体外传代均超过10代, 冷冻复苏率大于50%, 核型维持稳定, DNA-STR基因检测能对人细胞系进行个体识别.人异常染色体核型的成纤维细胞系和绒毛膜滋养层细胞系的建立,可以为探讨异常染色体产生机制及相关的分子遗传学研究提供细胞来源.     

Sex Chromosomal Homologies between Human and Fish Karyotypes Revealed by Chromosome Painting

Human sex chromosome-specific probes were hybridized to metaphase spreads of three fish species, Monopterus albus Zuiew, Danio rerioandMastacembelus aculeatusBasilewsky, to reveal evolutionary conservation of sex chromosomal segments between distantly related species of vertebrates. The human X chromosomal paint disclosed 4, 8, and 6 conserved syntenic segments in the karyotypes of the three fish species respectively, which were scattered in several pairs of homologous chromosomes. But no conserved segment was identified in our experiments when the human Y chromosomal probes were used. The evolution of the X chromosome of vertebrates is discussed.     

青海青甘韭9个居群的核型

本文研究了青海葱属青甘韭 9个居群的染色体数目和核型。其中分布于湟源、西宁和共和海拔相对较低的地区的居群为 2倍体 ,核型公式为 2n =2x =16 =14m 2st (2SAT) (湟源居群和西宁居群 ) ,2n =2x =16 =12m 2sm 2st (2SAT) (共和居群 ) ;分布于玛沁、玉树、囊谦等高海拔地区的居群为 4倍体 ,核型公式为 2n =4x =32 =2 8m 4st (2SAT) (玉树居群 1和囊谦居群 1) ,2n =4x =32 =2 4m 4sm 4st (玛沁居群和玉树居群 3)和 2n =4x =32 =2 6m 2sm 4st (玉树居群 2 ) ;囊谦一个生长在林下的居群为 8倍体 ,2n =8x =6 4 =54m 2sm 8st。讨论了居群间的核型分化和倍性与分布的关系。