[1]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.
 ZHENG Xiaoqin,MAO Yu,QIU Biyuan,et al.Gene mutation analysis of AR and SRD5A2 in 65 hypospadias cases with 46, XY karyotype[J].J Third Mil Med Univ,2018,40(11):998-1004.
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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(/HTML )
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《第三军医大学学报》[ISSN:1000-5404/CN:51-1095/R]

卷:
40卷
期数:
2018年第11期
页码:
998-1004
栏目:
临床医学
出版日期:
2018-06-15

文章信息/Info

Title:
Gene mutation analysis of AR and SRD5A2 in 65 hypospadias cases with 46, XY karyotype
作者:
郑小琴毛宇邱碧原彭春艳马誓唐向兰杨季云杨正林
成都中医药大学医学技术学院;电子科技大学附属医院·四川省人民医院:人类疾病基因研究重点实验室,小儿外科,产前诊断中心;电子科技大学医学院
Author(s):
ZHENG Xiaoqin MAO Yu QIU Biyuan PENG Chunyan MA Shi TANG Xianglan YANG Jiyun YANG Zhenglin

College of Medical Technology, Chengdu University of Traditional Chinese Medicine, Chengdu, Sichuan Province, 610075; Key Laboratory of Human Disease Genes, Department of Pediatric Surgery, Prenatal Diagnosis Center, Hospital of University of Electronic Science and Technology of China and Sichuan Provincial People’s Hospital, Chengdu, Sichuan Province, 610072; School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan Province, 610054, China

关键词:
尿道下裂AR基因SRD5A2基因基因突变
Keywords:
hypospadias AR gene SRD5A2 gene gene mutation
分类号:
R394.1; R596.1; R695
文献标志码:
A
摘要:

目的     观察临床诊断为尿道下裂、染色体核型为46,XY的患者AR及SRD5A2基因突变情况,探讨尿道下裂患者的遗传病因。方法     运用Sanger测序技术对2015-2017年在四川省人民医院就诊的65例临床诊断为尿道下裂、染色体核型为46,XY的患者AR和SRD5A2基因编码区进行检测。对检出候选致病突变行家系分析,对新突变行生物信息学分析。结果     65例尿道下裂患者中,8例患者在AR基因上存在半杂合子突变,共7个突变等位基因,其中2个突变未报道过:c.1792A>C、c.2581A>T。25例患者在SRD5A2基因存在纯合或复合杂合突变,共17个突变等位基因,其中4个突变未报道过:c.269A>C、c.350C>A、c.365A>G、c.662T>G。SRD5A2基因1号和4号外显子为突变热区,c.680G>A、c.16C>T为突变热点。AR和SRD5A2基因突变检出率为51%(33/65)。结论    在染色体核型为46,XY尿道下裂患者中存在AR和SRD5A2基因突变。6个新突变丰富了AR和SRD5A2基因突变谱。

Abstract:

Objective    To investigate AR 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 AR 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 AR 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, c.350C> A, c.365A> G, 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 AR 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 AR and SRD5A2 genes.

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更新日期/Last Update: 2018-06-14