65例染色体核型为46, XY的尿道下裂患者<italic style="font-style: italic">AR</italic>和<italic style="font-style: italic">SRD5A2</italic>基因突变分析

郑小琴; 毛宇; 邱碧原; 彭春艳; 马誓; 唐向兰; 杨季云; 杨正林

doi:10.16016/j.1000-5404.201712132

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65例染色体核型为46, XY的尿道下裂患者AR和SRD5A2基因突变分析

临床医学 | 更新时间：2026-01-09

- 65例染色体核型为46, XY的尿道下裂患者AR和SRD5A2基因突变分析
- Gene mutation analysis of AR and SRD5A2 in 65 hypospadias cases with 46, XY karyotype
- 第三军医大学学报 2018年40卷第11期页码：998-1004
- 作者机构：
- 作者简介：
- 基金信息：
- DOI：10.16016/j.1000-5404.201712132
  中图分类号：
- 收稿：2017-12-15，
  
  纸质出版：2018-06-15
- 稿件说明：
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郑小琴, 毛宇, 邱碧原, 等. 65例染色体核型为46, XY的尿道下裂患者AR和SRD5A2基因突变分析[J]. 第三军医大学学报, 2018,40(11):998-1004.

Xiaoqin ZHENG, Yu MAO, Biyuan QIU, et al. Gene mutation analysis of AR and SRD5A2 in 65 hypospadias cases with 46, XY karyotype[J]. Journal of Third Military Medical University, 2018, 40(11): 998-1004.
郑小琴, 毛宇, 邱碧原, 等. 65例染色体核型为46, XY的尿道下裂患者AR和SRD5A2基因突变分析[J]. 第三军医大学学报, 2018,40(11):998-1004. DOI： 10.16016/j.1000-5404.201712132.

Xiaoqin ZHENG, Yu MAO, Biyuan QIU, et al. Gene mutation analysis of AR and SRD5A2 in 65 hypospadias cases with 46, XY karyotype[J]. Journal of Third Military Medical University, 2018, 40(11): 998-1004. DOI： 10.16016/j.1000-5404.201712132.

摘要

Abstract

Objective

To investigate

and

SRD5A2

mutation in 65 hypospadias cases having 46

XY karyotype

and to explore the genetic causes of hypospadias.

Methods

Sanger sequencing was used to detect the coding regions of

and

SRD5A2

genes in 65 hypospadias patients having 46

XY karyotype who admitted in the Sichuan Provincial People's Hospital from 2015 to 2017. Family analysis was performed on the candidate pathogenic mutations. Bioinformatics analysis was carried out on the obtained mutant genes.

Results

Among the 65 hypospadias patients

8 had semi-heterozygous mutations in

gene

with 7 different mutant alleles

of which 2 mutations c.1792A

C and c.2581A

T have not been reported. Twenty-five patients had homozygous or complex heterozygous mutations in

SRD5A2

gene

including 17 different mutant alleles

of which 4 have never been reported (c.269A

c.350C

c.365A

and c.662T

G). The exon 1 and exon 4 have of

SRD5A2

gene were hot spot regions. c.680G

A and c.16C

T were hot spot mutation. The detection rate of

and

SRD5A2

mutations was 51% (33/65).

Conclusion

There exist genetic causes of hypospadias in the hypospadias patients with 46

XY karyotype. The 6 novel mutations have enriched the mutation spectrum of the

and

SRD5A2

genes.

关键词

Keywords

references

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65例染色体核型为46, XY的尿道下裂患者AR和SRD5A2基因突变分析

Gene mutation analysis of AR and SRD5A2 in 65 hypospadias cases with 46, XY karyotype

DOI：10.16016/j.1000-5404.201712132

摘要

Abstract

关键词

Keywords

references