一例罕见的复杂易位携带者的染色体绘画研究

本文报道了一例罕见的复杂易位男性携带者，结婚８年，其妻连续７次流产、死胎和出生早夭的畸型儿。用染色体显微切割、ＰＣＲ技术构建的人类７号和８号染色体特异性探针地对其进行了染色体绘画研究，分析确定其核型为：４６，ＸＹ，－７，－８，－９，＋ｄｅｒ（７）、ｔ（７；９）（ｑ２２００；ｐ２４），＋ｄｅｒ（８）ｉｎｖｉｎｓ（８；７）（ｑ２１００；ｑ３１．２ｑ２２００），＋ｄｅｒ（９）ｔ（９；７）（ｐ２４；ｑ３１．２）．ｉｓｈｄｅｒ（７）ｔ（７；９）（ｗｃｐ７＋），ｄｅｒ（８）ｉｎｖｉｎｓ（８；７）（ｗｃｐ７＋，ｗｃｐ８＋），ｄｅｒ（９）ｔ（９；７）（ｗｃｐ７＋）。染色体绘画技术为研究染色体异常提供了一种有效的分子细胞遗传学技术，本文并对携带者复杂易位的发生机理进行了讨论。

Study of Chromosome Painting for One Rare Carrier with Complex Translocation

This paper reports that one rare male carrier with complex translocation,being married for eight years,made his wife consecutive seven times abortions,stillbirth and teratogenesis of early death.Using human chromosome 7 and 8-specific probe pools constructed with the technique of chromosome microdissection and PCR,we carried out chromosome painting research of the patient,and identified the karyotype was:46,XY,-7,-8,-9, der(7)t(7;9) (q2200;p24), der(8)inv ins(8;7)(q2100;q31.2q2200), der (9)t(9;7)(p24;q31.2).ish der(7)t(7;9)(wcp7 ),der(8)inv ins(8;7)(wcp7 ,wcp8 ),der(9)t(9;7)(wcp7 ).The technique of chromosome painting provided us an effective technique of molecular cytogenetics for the study of chromosomal abnormalities.The formation mechanism of the complex translocation of the carrier is discussed.