| PCR-SSCP银染色法检测尿道下裂患儿雄激素受体基因突变 |
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| 引用本文： | 王军,袁继炎,周学锋,许娟. PCR-SSCP银染色法检测尿道下裂患儿雄激素受体基因突变[J]. 中华小儿外科杂志, 2000, 21(1): 19-21 |
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| 作者姓名： | 王军 袁继炎 周学锋 许娟 |
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| 作者单位： | 1. 武汉市儿童医院外科,430016
2. 武汉,同济医科大,学附属同济医院小儿外科,430030 |
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| 摘 要： | 研究尿道下裂的发生与雄激素受体基因突变间的关系。方法运用盐析法从２７例不同类型尿道下裂患儿外周血中提取基因组ＤＮＡ，然后通过聚合酶反应－单链构象多态性分析银染色法检测雄激素受体基因第２和第８外显子基因突变情况。结论激素受体基因突变可能与尿道下裂的发生有关，并可能与严重尿道下裂的发生关系更为密切。
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| 关 键 词： | 尿道下裂 受体 雄激素 PCR－SSCP 基因突变 |
| 修稿时间： | 1999-04-22 |
Androgen receptor gene mutation in children with hypospadias |
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| WANG Jun, YUAN Jiyan, ZHOU Xuefeng. Androgen receptor gene mutation in children with hypospadias[J]. Chinese Journal of Pediatric Surgery, 2000, 21(1): 19-21 |
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| Authors: | WANG Jun YUAN Jiyan ZHOU Xuefeng |
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| Affiliation: | WANG Jun, YUAN Jiyan, ZHOU Xuefeng;(Department of Pediatric Surgery, The Affilated Tongji Hospital, Tongji MedicalUniversity, Wuhan 430030, China) |
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| Abstract: | Objective To evaluate the status of androgen receptor gene in children with hypospadias.Methods Genomic DNA were extracted from peripheral blood leucocytes of 27 boys with various degree of hypospadias. Androgen receptor gene mutations (exons 2 and 8) were identified by silver staining of single strand conformation polymorphism analysis of polymerase chain reaction (PCR SSCP). Results Of them, 2 patients with severe hypospadias (one with perineal hypospadias and bilateral cryptorchidism, one with penoscrotal hypospadias) were found exon 8 androgen receptor gene mutation. No exon 2 mutation was found.Conclusion Mutation of androgene receptor gene may be associated with severe hypospadias. |
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| Keywords: | Hypospadias Receptor Androgen Genes |
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