摘要
目的：研究人类染色体臂间倒位的遗传效应，分析染色臂间倒位与不育、流产和畸胎的关系．方法：常规取外周血淋巴细胞培养制备染色体Ｇ显带标本，按人类细胞遗传学国际命名体制（ＩＳＣＮ）进行核型分析．结果：染色体臂间倒位在受检的２８７２人中，检出２９例，计有ｉｎｖ（９）２６例、ｉｎｖ（８）（ｐ１１．２ｑ２４．３）１例、ｉｎｖ（３）（ｐ２５ｑ２１）１例、ｉｎｖ（１）（ｐ３６ｑ２５）１例，其中ｉｎｖ（１）（ｐ３６ｑ２５）为世界首报核型．结论：ｉｎｖ（９）本身不具有病理学意义，而其它染色体臂间倒位与不育、流产和畸胎有关。
Objective: Tostudythegeneticeffectsofpericenticinversioninhumanchromosomesandtoanalysetherelationshipbetweenthepericentricinversionandthespontaneousabortion,infertilityandteratism. Methods: Routinelyculturedperipheralbloodlymphocyles,slideswereprocessedforGbandingandthekaryotypeswereanalysedwithaninternationalsystemforhumancytogeneticnomenclature(ISCN), Resulds. 29casesofpericentricinversionwerefoundfrom2872detectedsubjects,including26casesofinv(9),acaseofinv(8)(p11.2q24.3),acaseofinv(3)(p25q21)andacaseofinv(1)(p36q25)whichwasthefirstreportedintheworld. Conclusion: Inv(9)itselfdidnothavepathologicalsignificancebutthepericentricinversioninotherchromosomeswererelatedwiththespontaneousabortion,infertilityandteratism.T5HZ]
出处
《广东医学院学报》
1999年第2期93-95,共3页
Journal of Guangdong Medical College
关键词
细胞遗传学
臂间倒位
染色体倒位
cytogenetics
chromosomes,human
pericentricinversion
