中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2011年
5期
559-561
,共3页
王雪倩%张红岩%戚其玮%赵晶%徐俐
王雪倩%張紅巖%慼其瑋%趙晶%徐俐
왕설천%장홍암%척기위%조정%서리
无精子症%严重少精症%Y染色体微缺失%生殖激素
無精子癥%嚴重少精癥%Y染色體微缺失%生殖激素
무정자증%엄중소정증%Y염색체미결실%생식격소
azoospermia%severe oligozoospermia%microdeletion of Y chromosome%reproductive hormone
目的 探讨Y染色体AZF区域微缺失与生殖激素的关系.方法 应用多重PCR扩增对100例无精与严重少精症患者的4个区域15个位点进行AZF基因检测,并采用贝克曼全自动化学发光仪进行生殖激素的测定.采用Epidata建立数据库,应用SAS软件进行均数和方差分析F检验的统计分析.结果 100例患者中发生AZF微缺失的患者13例,检出率为13%.13例AZF微缺失情况:AZFa区缺失1例;AZFb+c+d区缺失4例;AZFc+d区缺失7例;AZFd区缺失1例.Y染色体AZFb+c+d区缺失患者的卵泡刺激素值(40.8±11.3)U/L显著高于无Y染色体缺失患者(16.7±14.3)U/L和AZFa区、AZFc+d区、AZFd区缺失患者(11.8±6.7)U/L,差异具有统计学意义(P<0.01).结论 在无精与严重少精症患者中Y染色体的微缺失以AZFc区和AZFd区缺失最常见,而Y染色体AZFb+c+d区的缺失可能是引起高卵泡刺激素的重要原因之一.
目的 探討Y染色體AZF區域微缺失與生殖激素的關繫.方法 應用多重PCR擴增對100例無精與嚴重少精癥患者的4箇區域15箇位點進行AZF基因檢測,併採用貝剋曼全自動化學髮光儀進行生殖激素的測定.採用Epidata建立數據庫,應用SAS軟件進行均數和方差分析F檢驗的統計分析.結果 100例患者中髮生AZF微缺失的患者13例,檢齣率為13%.13例AZF微缺失情況:AZFa區缺失1例;AZFb+c+d區缺失4例;AZFc+d區缺失7例;AZFd區缺失1例.Y染色體AZFb+c+d區缺失患者的卵泡刺激素值(40.8±11.3)U/L顯著高于無Y染色體缺失患者(16.7±14.3)U/L和AZFa區、AZFc+d區、AZFd區缺失患者(11.8±6.7)U/L,差異具有統計學意義(P<0.01).結論 在無精與嚴重少精癥患者中Y染色體的微缺失以AZFc區和AZFd區缺失最常見,而Y染色體AZFb+c+d區的缺失可能是引起高卵泡刺激素的重要原因之一.
목적 탐토Y염색체AZF구역미결실여생식격소적관계.방법 응용다중PCR확증대100례무정여엄중소정증환자적4개구역15개위점진행AZF기인검측,병채용패극만전자동화학발광의진행생식격소적측정.채용Epidata건립수거고,응용SAS연건진행균수화방차분석F검험적통계분석.결과 100례환자중발생AZF미결실적환자13례,검출솔위13%.13례AZF미결실정황:AZFa구결실1례;AZFb+c+d구결실4례;AZFc+d구결실7례;AZFd구결실1례.Y염색체AZFb+c+d구결실환자적란포자격소치(40.8±11.3)U/L현저고우무Y염색체결실환자(16.7±14.3)U/L화AZFa구、AZFc+d구、AZFd구결실환자(11.8±6.7)U/L,차이구유통계학의의(P<0.01).결론 재무정여엄중소정증환자중Y염색체적미결실이AZFc구화AZFd구결실최상견,이Y염색체AZFb+c+d구적결실가능시인기고란포자격소적중요원인지일.
Objective To investigate the relationship between follicle stimulating hormone (FSH) and AZF microdeletion on Y chromosome.Methods Fifteen loci of 4 regions of the AZF gene were investigated by multiplex PCR in 100 patients with azoospermia or severe oligozoospermia.The reproductive hormone FSH was detected by access 2 immunoassay system from BECKMAN COULTER.Epidata was set up and analyzed for means.F test of anova was performed.Results The rate of microdeletion was 13% (13 out of 100 patients).The deletion was on AZFa in 1 patient,AZFb+c+d in 4 patients,AZFc+d in 7 patients,AZFd in 1 patient,respectively.The level of FSH (40.8± 11.3 U/L) in the AZFb+c+d deletion group was significantly higher than that in the group without Y chromosome deletion (16.7± 14.3 U/L) and the other types of deletion (11.8±6.7 U/L) (P<0.01).Conclusion The common microdeletion regions were AZFc and AZFd on Y chromosome in azoospermia or severe oligozoospermia.The microdeletion of AZFb+c+d was one of the important causes of the high level of FSH.