应用MLPA技术对inv(9)(p11q13)携带者流产物的分析  

Analysis of the chorionic villous of patient with pericentric inversion of chromosome 9[inv(9)(p11 q13)]using MLPA

作　　者：张宏展 林奇 朱元昌 沈树秋 邹淑玲 朱文洁 

机构地区：[1]深圳中山泌尿外科医院生殖中心,广东深圳518000

出　　处：《中国优生与遗传杂志》2017年第7期14-17,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的应用MLPA技术对9号染色体臂间倒位携带者的流产物进行分析,探索流产物是否存在9号染色体长短臂末端部分单体和三体。方法回顾性分析应用MLPA技术对26例患者ART治疗后的流产物进行遗传物质的MLPA分析。结果在26例的流产物中有10例正常,16例异常,但未发现9号染色体长短臂末端部分单体和三体的结果。结论在inv(9)(p11q13)携带者的流产物中未发现9号染色体长短臂末端部分单体和三体的结果,未能找到导致流产的直接原因。Objective： Analysis of the chorionic villous of patients with pericentric inversion of chromosome 9 [inv （9） ] using MLPA, to explore the risk of segmental aneuploid and trisom on chromosome 9. Methods： A retrospective analysis was performed in 26 miscarriage patients after ART treatment with inv （9） , and their chorionic villious karyotypes were detected using MLPA method. Results： It was found that 10 cases were normal chromosome karotypes, and 16 cases were chromosomal abnormality （including monosomy and trisomy） , but no segmental aneuploid and trisome on chromosome 9 was found. Conclusion： Segmental aneuploid and trisome were not found in miscarriage villous, it suggests that inv （9） carriers might be no correlation with miscarriage.

关 键 词：inv(9)(p11q13) MLPA 流产物 9号染色体长短臂末端部分单体和三体 

分 类 号：R440[医药卫生—诊断学] R714.21[医药卫生—临床医学]