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目的:了解核型为45,X,der(Y)t(Y;13)(q11.1;q12),-13伴无精子症、双侧乳腺轻微发育和多发性皮下结节男性患者的分子遗传学特点。方法:进行常规染色体核型分析,用荧光原位杂交(FISH)进一步确定患者核型。用PCR-STSs以确定Yq上的断裂点。用DNA多态性方法检测位于13q12上的BRCA 2基因拷贝数。对患者的睾丸和皮下结节进行活检。结果:细胞遗传学和FISH证实患者SRY基因和Y染色体着丝粒位于13号染色体上。因此,患者核型为45,X,der(Y)t(Y;13)(q11.1;q12),-13.ish der(Y)(SRY+,DYZ3+,wcp13+)。Y染色体长臂上的AZFa,b,和C区域全部丢失,断裂点位于sY82以下。BRCA2基因的多态性检测无拷贝数的丢失。睾丸活检结果为唯支持细胞综合征。皮下结节病理检查为血管脂肪瘤。结论:患者的男性表型是由于基因组中存在SRY基因。无精子症、睾丸体积小与病理结果一致,是由于Y染色体Yq11.1→Yqter片段丢失所致。但血管脂肪瘤的分子机制仍然不清楚。
OBJECTIVES: To understand the molecular characteristics of patients with karyotyping of 45, X, der (Y) t (Y; 13) (q11.1; q12), - 13 with azoospermia, mild bilateral mammary gland development and multiple subcutaneous nodules Genetics. Methods: Conventional chromosome karyotype analysis was performed to further determine the karyotype of patients by fluorescence in situ hybridization (FISH). PCR-STSs were used to determine breakpoints on Yq. The BRCA2 gene copy number located on 13q12 was detected by DNA polymorphism. The patient’s testes and subcutaneous nodules were biopsied. RESULTS: Cytogenetics and FISH confirmed that the SRY gene and the Y chromosome centromere were located on chromosome 13. Thus, the patient’s karyotype was 45, X, der (Y) t (Y; 13) (q11.1; q12), - 13.ish der (Y) (SRY +, DYZ3 +, wcp13 +). The AZFa, b, and C regions on the long arm of Y chromosome were all lost and the breakpoint was below sY82. No polymorphism was detected in BRCA2 gene loss of copy number. Testicular biopsy results for the only support cell syndrome. Subcutaneous nodules pathological examination for vascular lipoma. Conclusion: The phenotype of the patient is due to the presence of the SRY gene in the genome. Azoospermia, small testis and pathological results are consistent, due to the Y chromosome Yq11.1 → Yqter fragment loss due. However, the molecular mechanism of angiolipoma remains unclear.