CAJ | 학술논문

目的探讨Y染色体结构多态与临床效应的关系。方法应用常规细胞遗传学技术对Y染色体结构异常进行检查分析。结果46例受检者共检出Y染色体多态性变异13例，变异检出率为28骀．26％（13/46）。其中包括大Y染色体10例，异常发生率为21．74％，明显高于普通人群中的发生率，差异有统计学意义（ P ＜0．01）；del（Y）2例，异常率为4．35％；t（Y；15）1例，异常率为2．17％。结论 Y染色体多态性与临床疾病有一定的联系，主要表现为男性不孕不育，其妻习惯性流产、死胎、死产，畸形儿、智力低下儿等。
목적탐토Y염색체결구다태여림상효응적관계。방법응용상규세포유전학기술대Y염색체결구이상진행검사분석。결과46례수검자공검출Y염색체다태성변이13례，변이검출솔위28태．26％（13/46）。기중포괄대Y염색체10례，이상발생솔위21．74％，명현고우보통인군중적발생솔，차이유통계학의의（ P ＜0．01）；del（Y）2례，이상솔위4．35％；t（Y；15）1례，이상솔위2．17％。결론 Y염색체다태성여림상질병유일정적련계，주요표현위남성불잉불육，기처습관성유산、사태、사산，기형인、지력저하인등。
Objective To investigate the relationship between Y chromosome structure polymorphism in males and clinical effects .Methods Y chromosome abnormality was examined and analyzed by conventional cytogenetic technology .Results A total of 46 cases were examined ,in which there were 13 cases of Y-chromosome polymorphism variation,and the mutation detection rate was 28.26%(13/46).Among them there were 10 cases of big Y chromosome,and the paragenesis rate was 21.74%,which was significantly higher than that in normal population( P <0.01),and there were 2 cases of del(Y),with abnormal rate being 4.35%,and there was 1 cases of t (Y;15),with abnormal rate being 2.17%.Conclusion Y-chromosome polymorphism is related to clinical diseases,including male infertility,male sterility,and his wife with habitual abortion,and stillbirth,stillbirths,infant deformities,mental retardation infants and so on .