一例特殊inv(Y)形成机理的研究  

Mechanism of the Formation of a Special inv(Y): A Case Study

作　　者：周波[1] 唐艳平[2] 刘永章[1] 

机构地区：[1]浙江省温州医学院生命科学院生物系,温州325035 [2]华中科技大学同济医学院生物系,武汉430030

出　　处：《遗传》2006年第2期148-152,共5页Hereditas（Beijing)

基　　金：浙江省教育厅科技项目基金(编号:20041046);温州市科技发展计划项目基金(编号:S2002A021)资助~~

摘　　要：应用双色荧光原位杂交的方法,国内首次报道一例特殊inv(Y)异常的性质,探讨Y染色体倒位结构异常的形成机理以及与习惯性流产临床表型的关系。应用Biotin11dUTP标记的Y染色体短臂断裂点Yp11.3探针(编号889)和CY3标记的Y染色体长臂断裂点Yq12远端异染色质区探针(编号PY3.4),对1例G显带核型分析为[46,XY(90%)/46,X,inv(Y)(p11.3;q12)]的平衡易位携带者进行双色荧光原位杂交研究。双色FISH结果显示,该易位携带者异常核型比例为22%,稍高于G显带分析中确定的比例。而且,除G显带检测出的倒位类型外,又有两种类型的倒位,其中涉及到常规显带技术难以检测出的染色单体型倒位。3种倒位类型的存在说明该患者inv(Y)断裂点呈不均一性。FISH技术是一种能准确可靠检测出染色体倒位形成的重要手段。We report for the first time in China, the characterization of a special abnormal inv（Y） with dual-color fluorescence in situ hybridization （D-FISH）. We also study the mechanism of the formation of chromosome Y inversion and its relationship with the phenotype of recurrent spontaneous abortion. Using biotin-11-dlJTP-labeled Ypl 1.3 breakpoint probe （.No. 8897 and CY3-1abeled Yq12 heterochromatic region DNA probe （.PY3.4）, we performed D-FISH on a balanced translocation carrier with a [46, XY（.90% ）/46, X, inv（.Y）（.p11. 3;q12）] karyotype determined by G-banding karyotyping, whose wife had recurrent miscarriages. The result of D-FISH shows that the percentage of cells with abnormal karyotypes is about 22 %, higher than that determinec, 1 by G-banding analysis. Moreover, besides the type of inversion diagnosed by G-banding, there are the two other abnormal karyotypes, including a type of chromatid inversion, which is difficult to be detected by conventional G-banding technique. The present of the three types of inversion confirms that the breakpoints of inv（.Y） are heterogeneous. D-FISH is a powerful tool for the detection of chromosomal inversion due to its sensitivity and specificity.

关 键 词：荧光原位杂交 倒位 习惯性流产 

分 类 号：R394[医药卫生—医学遗传学]