【摘要】 目的探讨46,XY女性性反转患者的发病机制。方法应用PCR扩增SRY基因;PCR产物通过限制性酶切-单链构象多态性方法检测未知突变;基因测序以进一步明确突变。结果11例46,XY女性患者中检出2例SRY基因缺失,9例46,XY女性患者PCR扩增出现609bp特异性片段,通过限制性酶切-单链构象多态性方法检测发现其中1例患者单链电泳带发生变异;基因克隆测序分析表明HMG盒内第244位核苷酸的位置存在点突变(A→T),导致第82位密码子发生错义突变,由原来编码天冬酰胺Asn(AAT)变为编码酪氨酸Tyr(TAT)。结论SRY基因的研究有助于阐明46,XY女性性反转的发病机理,为临床确诊提供科学依据。更多还原

【Abstract】 Objective:To explore the molecular mechanism of 46,XY female sex reverse patients. Methods:The SRY gene segment in the genomic DNA was amplified by polymerase-chain reaction(PCR); the PCR products were screened mutations using restriction endonuclease fingerprinting-single strand conformation polymorphism(REF-SSCP); mutations were confirmed by DNA sequencing. Results: Among eleven 46,XY female patients, SRY gene was deleted in two patients, 609-bp segments of SRY gene were amplified in nine patients; using restriction endonuclease fingerprinting-single strand conformation polymorphism (REF-SSCP), electrophoretic bands of DNA single strand in one patienet differed from that in normal male control; by gene cloning and DNA sequenceing techniques, A novel missense mutation was identified within the HMG-box of SRY gene in this patient. A T is replaced by T in codon 82 at position +244, resulting in a substitution of asparagine(AAT) for tyrosine(TAT), this point mutation has not been descried earlier and be a new mutation.Conclusion: The study of SRY gene have provided valuable information for the understanding of molecular mechanism of the patients with 46,XY sex reversal , which offers scientific ground for clinical diagnosis.更多还原