CAJ | 학술논문

目的：从1例45, X不育症男性的分子遗传学特征探讨无精子症或少弱精子症患者的遗传缺陷与精子生成障碍的关系，分析部分患者不育原因是否可能与染色体异常有关。方法采用常规染色体、FISH及分子检测技术，对该患者进行遗传学分析。结果常规染色体检测显示该患者核型为45,X,dic(Y；13)(q12；p11)。且易位的染色体中只有一个着丝粒具有活性，其中72%的细胞Y染色体着丝粒失活，13号染色体着丝粒收缩，具有活性，其余28%的细胞13号染色体着丝粒失活。FISH与分子遗传学分析证实患者13号短臂增加部分来源于Y染色体，Y断裂位点位于q12异染色质区。近端包括AZF和SRY在内的所有Y常染色体部分与13号染色体短臂融合，形成一条双着丝粒染色体。其13号染色体与Y染色体功能基因区未发生任何缺失。核型描述为45,X,dic(Y；13)(q12；p11).ish(SRY+, DYZ3+, GLP13+)。结论本例遗传学分析结果提示部分男性不育症可能是由Y/常染色体易位造成减数分裂异常，导致生精受阻，精子生成大量减少而引发不育。
목적：종1례45, X불육증남성적분자유전학특정탐토무정자증혹소약정자증환자적유전결함여정자생성장애적관계，분석부분환자불육원인시부가능여염색체이상유관。방법채용상규염색체、FISH급분자검측기술，대해환자진행유전학분석。결과상규염색체검측현시해환자핵형위45,X,dic(Y；13)(q12；p11)。차역위적염색체중지유일개착사립구유활성，기중72%적세포Y염색체착사립실활，13호염색체착사립수축，구유활성，기여28%적세포13호염색체착사립실활。FISH여분자유전학분석증실환자13호단비증가부분래원우Y염색체，Y단렬위점위우q12이염색질구。근단포괄AZF화SRY재내적소유Y상염색체부분여13호염색체단비융합，형성일조쌍착사립염색체。기13호염색체여Y염색체공능기인구미발생임하결실。핵형묘술위45,X,dic(Y；13)(q12；p11).ish(SRY+, DYZ3+, GLP13+)。결론본례유전학분석결과제시부분남성불육증가능시유Y/상염색체역위조성감수분렬이상，도치생정수조，정자생성대량감소이인발불육。
Objective To explore the relationship between spermatogenesis disorder and genetic defects of patients with azoospermia or severe oligospermia,and analyze the possible effcets of chromosome abnormalities on male infertilities. Methods Conventional cytogenetic, fluorescent in-situ hybridization(FISH) and molecular study were performed in the study to detect chromosome abnormalities. Results The conventional cytogenetic analysis showed 45,X,dic(Y;13)(q12;p11) karyotype and the translocation chromosome had only one active centromere. In most of the cell(72%), the Y chromosome centromere was inactivated and the chromosome 13 centromere constricted, with activation. In the remaining cells(36%), the chromosome 13 centromere was inactivated. FISH and molecular studies confirmed the translocation of Y chromosome on the short arm of chromosome 13, and the Y breakpoint is on q12. This dicentric chromosome included the short arm, the centromere and the intact long-arm euchromatin of the Y chromosome and the centromere and the long arm of chromosome 13. There was no any deletion of the functional gene in Y chromosome and chromosome 13. The karyotype was 45,X,dic(Y;13) (q12;p11).ish (SRY+, DYZ3+, GLP13+). Conclusion This result suggestss that male infertility might be related to meiotic disturbances with spermatogenetic arrest in Y/Autosome translocations,which could result in infertility by reduction of sperm production.