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摘要: 目的：分析472例尿道下裂患儿性染色体及SRY基因检测，探讨其与尿道下裂的遗传学效应。方法：采用荧光原位杂交（FISH）技术，检测患儿的性染色体和SRY基因[CSP X/CSP Y染色体着丝粒特异性探针及SRY（Yp11.2）/Yqh（DYZ1）基因探针]。结果：受检的472例患儿中，6例患儿出现异常，异常检出率为1.27%。结论：FISH技术对尿道下裂患儿潜在的基因异常有一定的诊断价值，对于结果有异常的患儿应再进行染色体核型分析及染色体微阵列技术检测。Abstract: Objective: To analyse sex chromosomes and SRY gene in 472 children with hypospadias and their genetic effects on hypospadias. Method: Fluorescence in situ hybridization(FISH) was used to detect the sex chromosome and SRY gene, CSP X/CSP Y chromosome centromere-specific probe and SRY(Yp11.2)/Yqh(DYZ1) gene probe. Result: Of the 472 children examined, 6 were abnormal and the abnormal detection rate was 1.27%.Conclusion: The FISH technique has a certain diagnostic value for the potential genetic abnormalities of children with hypospadias. For those with abnormal results, chromosome karyotype analysis and chromosome microarray technology should be performed later.
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Key words:
- hypospadias /
- FISH technology /
- children
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