CAJ | 학술논문

目的分析导致无精子因子区域(azoospermia factor,AZF)缺失的Y染色体断裂的特点.方法在272例无精子症、240例严重少精子症患者进行Y染色体AZF微缺失筛查基础上,对筛查发现大片段缺失的49例患者,选择AZFa、AZFb、AZFc区23个序列标签位点(sequence tagged site,STS),对断裂点进行定位分析.颖有无精子症缺失基因家族(deletedin azoospermia,DAZ)、基因部分拷贝缺失病例进行单核苷酸多态性(single nuecleotide varians,SNV)缺失分析以确定DAZ基因的拷贝数.结果 6例AZFb+C缺失患者,1例为sY98/sY1206缺失,4例为P5/P1远端重组,1例为P4/P1远端重组.3例筛查发现AZFb区缺失患者,1例为P5/P3缺失,2例为P5/P1近端重组,伴有DAZ1、DAZ2拷贝缺失.40例AZFc区全缺失患者,均为b2/b4同源重组.部份AZFb、AZFb+c缺失患者,睾丸穿刺活检发现精子生成减少或精子成熟障碍.结论对Y染色体AZF大片段缺失断裂点的大致定位有利于判断缺失发生机制,进而分析丢失的生精相关基因拷贝性质与数量,以评价其与生精障碍表型之间的关联.
목적 분석도치무정자인자구역(azoospermia factor,AZF)결실적Y염색체단렬적특점.방법 재272례무정자증、240례엄중소정자증환자진행Y염색체AZF미결실사사기출상,대사사발현대편단결실적49례환자,선택AZFa、AZFb、AZFc구23개서렬표첨위점(sequence tagged site,STS),대단렬점진행정위분석.영유무정자증결실기인가족(deletedin azoospermia,DAZ)、기인부분고패결실병례진행단핵감산다태성(single nuecleotide varians,SNV)결실분석이학정DAZ기인적고패수.결과 6례AZFb+C결실환자,1례위sY98/sY1206결실,4례위P5/P1원단중조,1례위P4/P1원단중조.3례사사발현AZFb구결실환자,1례위P5/P3결실,2례위P5/P1근단중조,반유DAZ1、DAZ2고패결실.40례AZFc구전결실환자,균위b2/b4동원중조.부빈AZFb、AZFb+c결실환자,고환천자활검발현정자생성감소혹정자성숙장애.결론 대Y염색체AZF대편단결실단렬점적대치정위유리우판단결실발생궤제,진이분석주실적생정상관기인고패성질여수량,이평개기여생정장애표형지간적관련.
Objective To analyze the characteristics of azoospermia factor(AZF)deletions in Ychromosome.Methods Based on the AZF microdeletion screening on 272 cases of azoospermia and 240 cases of severe oligozoo spermia,49 cases were investigated using 23 sequence-tagged sites(STS)in AZFa,AZFb and AZFc.For some cases,single nucleotide rarians(SNV)method was applied to identify the single nucleotide polymorphism(SNPs)in four DAZ gene copies and to determine the copy number of the DAZ gene.Results In 6 cases with deletions of AZFb+c,there was 1 case with sY98/sY1206 deletion,4 cases with P5/distal-P1 recombination and 1 with P4/distal-P1 recombination.In 3 cases with deletions in AZFb,1 case showed P5/P3 deletion and 2 cases showed PS/proximal-P1 recombination with DAZ1 and DAZ2 deletions.b2/b4 recombination was observed in all the 40 cases with deletions in AZFc.A fraction of patients with AZFb and AZFb+c deletions showed oligospermia and spermatogenic failure by testicular biopsy.Conclusion Breakpoint localization of deletions in AZF regions may help elucidating the mechanisms of microdeletions,and analysis of the characteristics and quantity of deleted genes essential for normal spermatogenesis may evaluate the association of phenotype with spermatogenic failure.