CAJ | 학술논문

目的分析1例育龄男性睾丸精原细胞瘤术前和放疗后精子性染色体数目异常情况,评估其生殖遗传风险.方法收集患者手术前、术后放疗前和术后放疗2个月后的精子标本,运用荧光原位杂交技术对其精子性染色体进行分析,检测性染色体数目异常情况,并对三组精子性染色体数目异常率进行比较统计学分析.结果计数35722个精子,三组 X 精子和 Y 精子比率均接近1:1.放疗后精子性染色体数目异常率较放疗前组有显著上升(XX 类型:0.148% versus 0.294%,P <0.05; XY 类型:0.274% versus 0.588%,P <0.001; YY类型:0.187% versus 0.354%,P <0.05);而术前组和术后组精子数目异常率比较差异无统计学意义,YY类型有差异(0.081 versus 0.187, P <0.05).结论放疗是造成精子性染色体数目异常率增高的主要因素,对于放疗后要求生育的患者,其子代有较高的生殖遗传风险.对于此类患者,建议准备怀孕前进行精子染色体数目 FISH 评估,同时进行产前诊断或胚胎着床前诊断,以有助于优生优育,减少生殖遗传风险.
목적분석1례육령남성고환정원세포류술전화방료후정자성염색체수목이상정황,평고기생식유전풍험.방법수집환자수술전、술후방료전화술후방료2개월후적정자표본,운용형광원위잡교기술대기정자성염색체진행분석,검측성염색체수목이상정황,병대삼조정자성염색체수목이상솔진행비교통계학분석.결과계수35722개정자,삼조 X 정자화 Y 정자비솔균접근1:1.방료후정자성염색체수목이상솔교방료전조유현저상승(XX 류형:0.148% versus 0.294%,P <0.05; XY 류형:0.274% versus 0.588%,P <0.001; YY류형:0.187% versus 0.354%,P <0.05);이술전조화술후조정자수목이상솔비교차이무통계학의의,YY류형유차이(0.081 versus 0.187, P <0.05).결론방료시조성정자성염색체수목이상솔증고적주요인소,대우방료후요구생육적환자,기자대유교고적생식유전풍험.대우차류환자,건의준비부잉전진행정자염색체수목 FISH 평고,동시진행산전진단혹배태착상전진단,이유조우우생우육,감소생식유전풍험.
Objective To analyze the numerical abnormalities of sex chromosome in sperm of seminoma patients before and after radiotherapy and evaluate its reproduction risks. Methods Fluorescence in situ hybridization (FISH) was preformed to detect the number of sex chromosome in sperm samples harvested from a seminoma patient before and after radiotherapy and before operation. Statistical analysis was carried out to evaluate the sex chromosomal numerical abnormalities between three groups. Results Sum of 35722 sperm cells were counted, the ratio of the X-bearing and Y-bearing sperm cells was closely to 1:1 in three groups, respectively. The incidence of sex chromosomal abnormal combinations (XX, XY, YY) were significantly increased in the post-radiotherapy group compared with that before radiotherapy group (0.294% versus 0.148%, P<0.05; 0.588% versus 0.274%, P<0.001; 0.354% versus 0.187%, P<0.05, respectively). Only YY-typed difference was significant between pre-operation and post-operation groups (0.187 versus 0.081, P<0.05), whereas no significance in total sex chromosome numerical abnormalities between two groups. Conclusion Increased incidence of sex chromosomal numerical abnormalities and high risks of reproductive and genetic disease was suggested in patients who underwent the radiotherapy treatment in the present study. FISH test is recommended to evaluate the rate of chromosomal numerical abnormalities; PGD and prenatal diagnosis are advised to increase the likelihood of a successful pregnancy.