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1.
目的:探讨染色体核型分析及SRY基因检测在性发育异常中的意义。方法:通过染色体G显带及聚合酶链式反应(PCR)对13例性发育异常患者进行染色体核型及睾丸决定基因(SRY)分析。结果:3例46,XX男性,SRY基因阳性:3例46,XY女性,SRY基因阳性;2例46,XY男性,SRY阴性:1例46,XY女性,SRY阴性1例45,X/46,XX/46,X,-X, mar男性,SRY阴性;1例47,XXY男性,SRY阳性1例46,X,-X, mar女性,SRY阳性;1例45,X/46,XY女性,SRY阳性。结论:性染色体异常和SRY基因异常均能导致性分化及发育异常。 相似文献
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目的 通过对16例性分化异常患进行细胞遗传学和Y染色体上的性别决定区(SRY)基因检测,为临床检测提供参考,并对性分化异常机制进行探讨。方法 对染色体G显带与聚合酶链反应对性分化异常患进行染色体核型分析与SRY基因的检测。结果 7例46,XY患SRY均阳性;2例46,XX/46,XY嵌合体患,1例阳性,1例阴性;7例46,XX(或46,XX/45,X0、45,X0)患,5例阳性,2例阴性。结论 性染色体异常与SRY基因异常均可导致性器官发育异常。 相似文献
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目的:从基因水平进行性别检测,为性发育异常患者的基因结构分析提供依据和检测方法。方法:应用PCR技术,扩增SRY基因,ZFX/ZFY基因,DYZ1顺序进行性发育异常患者的基因检测。结果:检测14例患者中,1-4例为SRY基因异常所致的性反转综合征;5-7例为性染色体数目异常或结构畸变所致的Turner综合征;8-9例为性染色体(X)与常染色体易位所致性腺发育不全;10-14例为Y染色体多态。结论:SRY基因和性染色体数目异常及结构畸变是导致性发育异常的主要原因。Y染色体上特异序列的检测对该疾病的病因学研究有重要意义。 相似文献
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目的:研究性分化异常患者的染色体核型和SRY基因在性分化异常中的作用。方法:采用常规G显带方法分析10例性分化异常患者的染色体核型并通过应用PCR技术扩增SRY基因。结果:10例性分化异常患者中,有5例男性患者染色体核型为46,XX,其SRY基因为阴性,2例男性患者染色体核型为46,XX,其SRY基因为阳性,2例女性患者染色体核型为46,XY,其SRY基因为阳性,1例女性患者染色体核型为46,XY/45,X,其SRY基因为阳性。结论:性分化异常患者的染色体核型与其性腺性别不相符,SRY基因是在性分化异常中睾丸分化和发育的关键基因。 相似文献
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目的对6例外生殖器异常的患儿进行SRY基因检测,为临床诊断提供参考,并对性发育异常机制进行初步探讨。方法应用PCR扩增及PCR产物直接测序进行SRY基因分析。结果1例45,XO男性患儿,SRY基因阳性,1例46,XX男性,SRY阴性;1例46,XY女性,SRY基因阳性。对其SRY基因保守区测序结果表明该区无突变。3例46,XY男性外生殖器异常患儿,SRY基因均为阳性。结论45,XO男性患儿是由于SRY基因易位所致。女性性反转非SRY基因保守区突变所致。男性性反转可能由于常染色体上与性别决定有关的基因突变所致。 相似文献
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目的研究尿道下裂患儿性染色体异常在细胞遗传学及分子遗传学上的异常原因。方法染色体G带核型分析同时采用Y染色体特异性引物SRY、DYZ,用DXZ作对照,对尿道下裂患儿基因组DNA进行PCR检测。结果60例尿道下裂患儿中,检出4例性染色体核型异常,其中1例为46,X,-Y, ace/45,X嵌合体染色体核型,PCR检测,SRY、DYZ( );1例46,XX/46,XY,真两性畸形,SRY、DYZ( ):1例46,XX、SRY、DYZ,(一);1例49,XXXXY,SRY、DYZ,( )。通过SRY、DYZ基因的检测,4例患儿的性别得到认定。结论对尿道下裂患儿,应用染色体G带核型分析结合DNA,PCR检测、鉴别有着重要意义,可以给临床提供重要的实验依据。 相似文献
7.
目的 对 6例性发育异常患儿进行SRY基因检测 ,为临床诊断提供参考 ,并对性发育异常机理进行初步探讨。方法 应用PCR扩增及PCR产物直接测序进行SRY基因分析。结果 1例 4 5,XO男性患儿 ,SRY基因阳性 ,1例 4 6,XX男性 ,SRY阴性 ;1例 4 6,XY女性 ,SRY基因阳性。对其SRY基因保守区测序结果表明该区无突变。 3例 4 6,XY男性性异常患儿 ,SRY基因均为阳性。结论 4 5,XO男性患儿是由于SRY基因易位所至。女性性反转非SRY基因保守区突变所至。男性性反转可能由于常染色体上与性别决定有关的基因突变所至。 相似文献
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目的:探讨SRY基因在诊断性发育异常患者中的应用效果。方法:对6例性发育异常患者,利用PCR法进行SRY基因的检测与分析。结果:6例患者的核型中,4例46,XY;1例46,XX;1例45,X。其中,3例46,XY男性患者SRY基因扩增阳性,1例46,XY男性患者SRY基因扩增阴性,1例46,XX男性患者SRY基因扩增阴性,1例45,X患者SRY基因扩增阳性。结论:SRY基因的启动可能与决定人类性别有关,对其检测可协助诊断性发育异常。 相似文献
9.
原发性闭经患者染色体核型分析及SRY基因检测 总被引:1,自引:0,他引:1
目的:分析原发性闭经患者染色体异常核型及Y染色体上的性别决定区(SRY)基因,并对原发性闭经的原因进行探讨.方法:采用染色体G显带及聚合酶链反应对71例原发性闭经患者进行染色体核型分析及SRY基因检测.结果:71例原发性闭经患者中检出核型异常者23例;6例SRY阳性.其中45X 7例、45X/46XX1例、45X/46Xi(Xq)3例、46Xi(Xq)6例、46XX/46XY 2例、46XY 4例.1例45X/46Xi(Xq)SRY基因为阳性,2例46XX/46XY均检测出SRY基因,4例46XY中3例SRY阳性,其余患者SRY基因均为阴性.结论:染色体核型异常与SRY基因异常均可导致原发性闭经. 相似文献
10.
对6例性发育异常患者进行SRY基因检测,为临床诊断提供参考,并对性发育异常机理进行初步探讨。应用PCR扩增及PCR产物直接测序进行SRY基因分析。结果:1例45,XO男性患者,SRY基因阳性;1例46,XX男性,SRY阴性。1例46,XY女性,SRY基因阳性,对其SRY基因保守区测序结果表明,该区无突变。3例46,XY男性性异常患者,SRY基因均为阳性。45,XO男性患者是由于SRY基因易位所至。女性性反转非SRY基因保守区突变所至。男性性反转可能由于常染色体上与性别决定有关的基因突变所至。 相似文献
11.
目的 研究性反转综合征的发生与性别决定基因SRY(sex-determining region on the Ychromosome)之间的关系。方法 应用聚合酶链反应(polymerase-chain reaction,PCR)对2例46,XX男性性反转及1例46,XY女性性反转患者进行SRY扩增,并将扩增产物在ABI-377测序仪上测序。结果 2例46,XX男性性反转患者SRY检测1例阳性,1例阴性。46,XY女性性反转患者SRY阳性,2个SRY阳性病例DNA序列分析均未检测到突变。结论 SRY是性别决定和分化的重要基因,SRY阴性XX男性性反转及SRY阳性但无突变的XY女性性反转的发生,可能与其它性别分化相关基因的异常有关。 相似文献
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应用SRY基因编码区1对特异寡核苷酸引物进行基因组DNA扩增,结合单链构象多态性分析,银染显色,探讨性别决定基因(sex-determining region on Y, SRY)对性发育异常患者临床诊断的意义。结果:5例患者中,2例46,XX男性显示与男性相同的特异扩增带;3例46,XY女性中2例无男性特异扩增带,1例显示SRY基因片段扩增,经单链构象多态性分析,显示与正常男性扩增片段相同的单链泳动带型。支持SRY基因是男性性别决定的关键基因的假说,提示SRY基因的调节基因等可能参与协同作用。 相似文献
13.
The role of sexual related Y gene detection in the diagnosis of patients with gonadal dysgenesis 总被引:5,自引:0,他引:5
Objective To clarify the role of sexual related Y (SRY) gene detection in the diagnosis of gonadal dysgenesis.Methods Sixteen cases of gonadal dysgenesis were included in this study: 5 with androgen insensitivity syndrome, 1 with 17-α-hydroxylase deficiency, 4 with true herm aphrodite, 2 with 45,X/46,XY gonadal dysgenesis, 1 with 45,X gonadal dysgenesis, 1 with XY pure gonadal dysgenesis, 1 with testicular regression, and 1 XY fema le who gave birth to a normal baby. SRY gene was detected by using polymerase c hain reaction (PCR) in blood and gonad samples and by direct sequencing of the S RY motif. Results Among the 16 cases, 15 were blood SRY positive, among which 13 (86.7%) showed t he presence of testicular tissue, and 2 showed ovaries without testicular tissue . One SRY negative case showed the presence of testicular tissue. In 3 cases, SRY detection in gonadal tissue correlated with pathological findings but not wi th blood karyotype. The correlation between peripheral blood SRY and the pathol ogy of the gonads was 81.25% and the correlation between the presence of periph eral blood Y chromosome and pathology of the gonads was 68.75%. Sequencing of the SRY motif in an XY female who gave birth to a normal baby showed no mutatio n.Conclusions SRY detection is more sensitive and specific than blood karyotype in the predic tion of the presence of testicular tissue. Peripheral blood karyotype does not necessarily reflect gonadal type. There may be testicular related factors other than the SRY gene. 相似文献
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Analysis of SRY Gene in 8 Cases of Sex Abnormality 总被引:2,自引:0,他引:2
In order to investigate the relationship between sex dysplasia and sex-determining region Y (SRY) gene, 8 patients with sexual abnormality were analyzed by cytogenetic and molecular genetic methods. Fluorescence in situ hybridization (FISH) using PY3.4, X alpha satellite, and SRY probes was performed in each case to analyze the sex chromosome translocation and gene translocation. SRY gene was amplified by polymerase chain reaction (PCR) and its mutation was detected by direct sequencing. The results showed that among 8 patients, 5 were positive for SRY and the remaining negative for SRY. In the patients positive for SRY genes, 3 presented testes and the left 2 streak ovaries. In the patients negative for SRY, only one case presented testes, while 2 ovaries. Direct sequencing demonstrated that all SRY genes were normal in the patients positive for SRY genes. FISH technique demonstrated that SRY genes translocated from Ypter to Xpter in 2 46,XX phenotypic males positive for SRY genes. It was concluded that SRY gene is strongly in volved inmale sex determination, while a sequence of other genes may be taken into account in sexual development. 相似文献
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SRY (sex-determining region Y chromosome) is considered as a strong candidate for the TDF (testis determining factor) and has been cloned following another candidate ZFY (zinc finger protein gone). In this study,eight cases of sex reversal, including four 46, XX males and four 46, XY females were examined for the presence of SRY sequence and a Y-repeated DNA locus. Our data indicated that the genomie DNA of the four classical 46,XX males had the SRY sequences. On the other hand, both SRY sequences and Y-repeated DNA sequences were present in aii four 46, XY females.These results suggest that SRY sequences were responsible for the sex reversal of 46, XX males whereas there may be other genetic mechanisms for the sex reversal of 46, XY females without the lack of SRY sequences. 相似文献