CAJ | 학술논문

目的探讨Y染色体微缺失与精子发生障碍患者染色体核型、临床表型、性激素水平等因素的关系.方法采用多重PCR技术检测42例非梗阻性无精子症及39例严重少精子症患者的SRY基因、ZFY基因及AZFa、AZFb和AZFc3个区域的6个序列标签位点.结果 81例非梗阻性无精子症及严重少精子症患者中发现了10例微缺失,发生率12.35%,其中非梗阻性无精子症患者6例,严重少精子症患者4例;10例微缺失患者中,1例为AZFa+AZFb+AZFc区缺失,2例为AZFb+AZFc区缺失,1例为AZFb区缺失,6例为AZFc区缺失.结论 Y染色体长臂微缺失与精子发生障碍相关,有必要对非梗阻性无精子症及严重少精子症患者进行Y染色体微缺失检测.
목적 탐토Y염색체미결실여정자발생장애환자염색체핵형、림상표형、성격소수평등인소적관계.방법 채용다중PCR기술검측42례비경조성무정자증급39례엄중소정자증환자적SRY기인、ZFY기인급AZFa、AZFb화AZFc3개구역적6개서렬표첨위점.결과 81례비경조성무정자증급엄중소정자증환자중발현료10례미결실,발생솔12.35%,기중비경조성무정자증환자6례,엄중소정자증환자4례;10례미결실환자중,1례위AZFa+AZFb+AZFc구결실,2례위AZFb+AZFc구결실,1례위AZFb구결실,6례위AZFc구결실.결론 Y염색체장비미결실여정자발생장애상관,유필요대비경조성무정자증급엄중소정자증환자진행Y염색체미결실검측.
Objective To explore the relationship between Y chromosomal microdeletions and chromosome karyotype,clinical phenotypes and sex hormone levels in patients with spermatogenic failure.Methods SRY gene,ZFY gene and 6 sequence-tagged-sites in AZFa,AZFb and AZFc were detected with multiplex polymerase chain reaction in 42 non-obstructive azoospermic and 39 severe oligozoospermic men.Results Ten cases (12.35%) of microdeletions were found in 81 non-obstructive azoospermic (6 cases) or severe oligozoospermic patients (4 cases).Among the 10 patients with Y chromosomal microdeletions, 1 had deletion of AZFa+AZFb+AZFc,2 AZFb+AZFc, 1 AZFb and 6 AZFc.Conclusion Microdeletions in the long arm of Y chromosome were associated with spermatogenic failure.Screening for Y chromosomal microdeletions in azoospermic or severe oligozoospermic patients should be of necessity and significance.