|Table of Contents|

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

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《第三军医大学学报》[ISSN:1000-5404/CN:51-1095/R]

Issue:
2018年第11期
Page:
998-1004
Research Field:
临床医学
Publishing date:

Info

Title:

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

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

Keywords:

hypospadias AR gene SRD5A2 gene gene mutation

PACS:
R394.1; R596.1; R695
DOI:
-
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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Last Update: 2018-06-14