染色体病诊断技术
染色体病诊断技术
染色体病的诊断技术一、人类染色体的形态二、染色体畸变三、常染色体病诊断技术四、性染色体病诊断技术五、荧光原位杂交技术
染色体病的诊断技术 一、人类染色体的形态 二、染色体畸变 三、常染色体病诊断技术 四、性染色体病诊断技术 五、荧光原位杂交技术
一、人类染色体的形态1、染色体标本的制备2、染色体的形态3、染色体的分组
一、人类染色体的形态 1、染色体标本的制备 2、染色体的形态 3、染色体的分组
1、染色体标本的制备（1）取材外周血淋巴细胞骨髓细胞羊水细胞绒毛膜细胞皮肤成纤维细胞癌肿细胞进入母体循环的胎儿淋巴细胞（1/5000-1/20000）妊娠12-16周.18ml母血中可收集到1-22个胎儿有核RBC
1、染色体标本的制备 （1）取材 ◼ 外周血淋巴细胞 ◼ 骨髓细胞 ◼ 羊水细胞 ◼ 绒毛膜细胞 ◼ 皮肤成纤维细胞 ◼ 癌肿细胞 ◼ 进入母体循环的胎儿淋巴细胞(1/5 000-1/20 000) ◼ 妊娠12-16周,18ml母血中可收集到1-22个胎儿有核RBC
(2)制备的关键步骤（2）关键步骤（以外周血淋巴细胞为例）植物血凝素白细胞有丝分裂淋巴母细胞PHA·秋水仙素破坏纺锤丝的形成一停留于中期或前期末）·固定+染色制片低渗镜下观察
(2)制备的关键步骤
STEATake bloodSTEASTEASTEPsample.523STEA4StimulateRemoveSeparatecells towhitecells fromdivide.cells.STEAserum byCulture in vitro.6Disablecentrifugation.mitoticSTEASTEASTEAspindle.987Examinechromosomes.XISquash cellsAdd hypotonicon slide, fix,solution toswell cells.and stain
Fig 7.1 Preparation of cells for cytological analysis © 2003 John Wiley and Sons Publishers
ATCPGATCCCCATGTGATCGTAG蒋有兴(JoeHin Tjio.1919-2001)
Nm12701Joe Hin Tjio, 82; Research Biologist Counted ChromosomeByWOLFGANGSAXONwas a photographer, and the sonat the laboratory of expeDr. Joe Hin Tjio, the research biol-becamean accomplished one,too,aspathology of what was therogist who produced the first correctan apprentice in theparental studio.tional Institute of Arthritis count of the chromosomes in humanHe went to strict Dutch colonialbolic Diseases. His work oncells, died Nov. 27 In Gaithersburg.schools, where he learned French,somes focused on leukemiaMd. He was 82.1955German and English as well astal retardation.Dr. Tjlo (pronounced CHEE-oh)Dutch. He graduated from the SchoolNamed a scientist emaccomplished that feat In o5eas aof Agronomy in Bogor,Indonesta, In1992, he kept his laboratovisiting scientist at the University of1940, and engaged in breeding pota-until 1997, when he moved toLund, Sweden. His surprise discov-toes, trying to find a disease-proofment community in Gaitheery helped pave the way to muchhybrid.Dr.Tjlolssurvived byhiwork in human biology pertaining toIn World War II, when the Japa-53 years,Inga,and a son, Yuchromosomal abnormalities.nese Army occupied what was thenof Silver Spring, Md.He later joined the staff of thethe Dutch East Indles, he spent threeNational Institutes of Health, andyears in an internment camp. OncePresident John F.Kennedy honoredreleased, a Red Cross boat for dis-him with an outstanding achieve-placed persons took him to the Neth-mentawardin1962.erlands, and he spent several yearsThe nature and functions of chro-studying and working there, in Den-mosomes,the agents of heredity,hadmark and Spain.been known when Dr.Tjio correctlyBut each summer he was at thecounted the number of chromo-Institute of Genetics in Lund, wheresomes.But observing human chro-he studied mammalian tissues. HeRIichMcManus/NIHRecordmosomesunderthemicroscopehadacquired wide expertise in cytoge-Dr. Joe Hin Tjio in 1997.always been more difficult than ob.netics investigating the behavior ofserving those of other species, andchromosomes and genes in cells asber was just an incidentai finding,"scientists had long assumed thatthey affect heredity and variation.chromosomes normally numberedhe recalled many years later.Aftergaining international recog48ineachbodycellHe continued his study of chromo-nition, he came to the United StatesDr. Tjio used an advanced tech-somes,looking for clues to some ofand received a Ph.D. in biophysicsnique to separate chromosomes ofthe most baffling and tragic humanand cytogenetics at the University ofembryonic lung tissueon glass slidesdiseases.Colorado in 1960and,to his own amazement, sawthatJoeHinTjiowasbornin1919toHe became associated with the Na-the actual figure was 46."The num-Chinese parents in Java. His fathertional Institutes in 1959 and worked
ATCTGATOCCATGTGATCGTAG徐道觉(Tao Chiuh Hsu.1917-2003
2、染色体的形态80
2、染色体的形态