中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2014年
1期
65-68
,共4页
林少宾%谢英俊%吴坚柱%方群%陈争%陈宝江
林少賓%謝英俊%吳堅柱%方群%陳爭%陳寶江
림소빈%사영준%오견주%방군%진쟁%진보강
假双着丝粒染色体%荧光原位杂交%多重聚合酶链反应%Y染色体微缺失%无精子因子
假雙著絲粒染色體%熒光原位雜交%多重聚閤酶鏈反應%Y染色體微缺失%無精子因子
가쌍착사립염색체%형광원위잡교%다중취합매련반응%Y염색체미결실%무정자인자
Pseudodicentric chromosome%Fluorescence in situ hybridization%Multiplex polymerase chain reaction%Y chromosome microdeletion%Azoospermia factor
目的 对1例严重少弱精症患者进行遗传学病因诊断.方法 应用染色体显带及荧光原位杂交(fluorescence in situ hybridization,FISH)检测,分析患者染色体畸变的来源及结构特征,并采用多重PCR技术对Y染色体无精子因子(azoospermia factor,AZF)进行微缺失检测.结果 患者G显带核型为45,X,der(15)(?∶∶p11.2 →qter) dn；双色FISH结果提示15号染色体短臂上的未知来源片段包含性别决定基因(sex-determing region of Y chromosome gene,SR Y),同时提示存在镶嵌型性染色体数目异常,结果描述为:nuc ish(DXZ1×1,SRY×1)[390]/ (DXZ1×2,SRY×1)[10];四色FISH结果提示15号衍生染色体为Y与15号染色体易位形成的假双着丝粒染色体,结果描述为:45,X,der(15)(?∶∶p11.2→qter) dn.ishpsudic(15;Y)(p11.2;q12) (D15Z1+,SNRPN+,PML+; SRY+,DYZ3+,DYZ1+). AZF微缺失的多重PCR检测结果显示AZFc部分缺失,缺失位点在sY254.结论 综合细胞与分子遗传学检测结果,该患者患不育症的遗传学病因为:Y与15号染色体易位形成的假双着丝粒染色体,以及AZFc部分缺失,影响正常的减数分裂过程而导致精子生成阻滞.
目的 對1例嚴重少弱精癥患者進行遺傳學病因診斷.方法 應用染色體顯帶及熒光原位雜交(fluorescence in situ hybridization,FISH)檢測,分析患者染色體畸變的來源及結構特徵,併採用多重PCR技術對Y染色體無精子因子(azoospermia factor,AZF)進行微缺失檢測.結果 患者G顯帶覈型為45,X,der(15)(?∶∶p11.2 →qter) dn；雙色FISH結果提示15號染色體短臂上的未知來源片段包含性彆決定基因(sex-determing region of Y chromosome gene,SR Y),同時提示存在鑲嵌型性染色體數目異常,結果描述為:nuc ish(DXZ1×1,SRY×1)[390]/ (DXZ1×2,SRY×1)[10];四色FISH結果提示15號衍生染色體為Y與15號染色體易位形成的假雙著絲粒染色體,結果描述為:45,X,der(15)(?∶∶p11.2→qter) dn.ishpsudic(15;Y)(p11.2;q12) (D15Z1+,SNRPN+,PML+; SRY+,DYZ3+,DYZ1+). AZF微缺失的多重PCR檢測結果顯示AZFc部分缺失,缺失位點在sY254.結論 綜閤細胞與分子遺傳學檢測結果,該患者患不育癥的遺傳學病因為:Y與15號染色體易位形成的假雙著絲粒染色體,以及AZFc部分缺失,影響正常的減數分裂過程而導緻精子生成阻滯.
목적 대1례엄중소약정증환자진행유전학병인진단.방법 응용염색체현대급형광원위잡교(fluorescence in situ hybridization,FISH)검측,분석환자염색체기변적래원급결구특정,병채용다중PCR기술대Y염색체무정자인자(azoospermia factor,AZF)진행미결실검측.결과 환자G현대핵형위45,X,der(15)(?∶∶p11.2 →qter) dn；쌍색FISH결과제시15호염색체단비상적미지래원편단포함성별결정기인(sex-determing region of Y chromosome gene,SR Y),동시제시존재양감형성염색체수목이상,결과묘술위:nuc ish(DXZ1×1,SRY×1)[390]/ (DXZ1×2,SRY×1)[10];사색FISH결과제시15호연생염색체위Y여15호염색체역위형성적가쌍착사립염색체,결과묘술위:45,X,der(15)(?∶∶p11.2→qter) dn.ishpsudic(15;Y)(p11.2;q12) (D15Z1+,SNRPN+,PML+; SRY+,DYZ3+,DYZ1+). AZF미결실적다중PCR검측결과현시AZFc부분결실,결실위점재sY254.결론 종합세포여분자유전학검측결과,해환자환불육증적유전학병인위:Y여15호염색체역위형성적가쌍착사립염색체,이급AZFc부분결실,영향정상적감수분렬과정이도치정자생성조체.
Objective To explore genetic etiologies of a patient with severe oligozoospermia and asthenozoospermia,Methods G-banded karyotyping and fluorescence in situ hybridization (FISH) were used to characterize the origin and structure of the abnormal chromosome discovered in this patient.Multiplex polymerase chain reaction (PCR) was used to detect microdeletion of azoospermia factor (AZF).Results G-banding revealed a karyotype of 45,X,der(15) (? ∶ ∶ p1 1.2→qter) dn for the patient.Dual-color FISH confirmed that SRY gene was present in a segment attached to the short arm of chromosome 15.Sex chromosome mosaicism and numerical abnormality therefore were both present.Dual-color FISH revealed karyotype of nuc ish (DXZ1× 1,SRY× 1) [390/400]/(DXZ1 × 2,SRY× 1) [10/400].Four-color FISH showed that the abnormal chromosome 15 has derived from a pseudodicentric (Y; 15) translocation,and that the breakpoint on Y chromosome was located at Yq12.G-banding and FISH results confirmed that the karyotypewas45,X,der(15)(? ∶∶p11.2→qter)dn.ish psu dic(15;Y)(p11.2;q12)(D15Z1+,SNRPN+,PML+;SRY+,DYZ3+,DYZ1 +).Microdeletion of AZFc combined with sY254 deletion was detected by multiplex PCR.Conclusion Cytogenetic and molecular genetic analysis of the patient has indicated meiotic disturbances with spermatogenetic arrest resulting from a pseudodicentric chromosome derived from Y; 15 translocation and spermatogenesis dysfunction resulting from partial deletion of AZFc region.
