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[Mutation analysis of the androgen receptor gene in a complete androgen insensitivity syndrome family].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Dec; 26(6):606-9.ZY

Abstract

OBJECTIVE

To study the mutation of the androgen receptor gene in a family with complete androgen insensitivity syndrome and to explore the pathogenicity of the mutation.

METHODS

PCR and DNA sequencing were performed to study the AR gene mutation; Mbo I restriction endonuclease was used to detect existence of the mutation in normal controls; conservation of the mutation site was analyzed by comparison of the sequence of amino acid among different species.

RESULTS

The DNA sequence of the three patients contained the same substitution of a single nucleotide on codon 681 GAG to GAT of exon 4, which located in the ligand binding domain of the AR receptor and led to substitution of glutamic acid to aspartic acid in the AR receptor. Their mother was heterozygote of E681D. E681D was not observed in the normal controls. The E681 site was extremely conservative in different species.

CONCLUSION

The E681D mutation of the AR gene is a novel mutation of leading to complete androgen insensitivity syndrome.

Authors+Show Affiliations

Central Laboratory, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, Guangdong, 518048 PR China.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

English Abstract
Journal Article
Research Support, Non-U.S. Gov't

Language

chi

PubMed ID

19953479

Citation

Wu, Weiqing, et al. "[Mutation Analysis of the Androgen Receptor Gene in a Complete Androgen Insensitivity Syndrome Family]." Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, vol. 26, no. 6, 2009, pp. 606-9.
Wu W, Luo F, Geng Q, et al. [Mutation analysis of the androgen receptor gene in a complete androgen insensitivity syndrome family]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009;26(6):606-9.
Wu, W., Luo, F., Geng, Q., Hao, Y., Chen, W., Cai, J., & Xie, J. (2009). [Mutation analysis of the androgen receptor gene in a complete androgen insensitivity syndrome family]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 26(6), 606-9. https://doi.org/10.3760/cma.j.issn.1003-9406.2009.06.001
Wu W, et al. [Mutation Analysis of the Androgen Receptor Gene in a Complete Androgen Insensitivity Syndrome Family]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009;26(6):606-9. PubMed PMID: 19953479.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Mutation analysis of the androgen receptor gene in a complete androgen insensitivity syndrome family]. AU - Wu,Weiqing, AU - Luo,Fuwei, AU - Geng,Qian, AU - Hao,Ying, AU - Chen,Wubin, AU - Cai,Jun, AU - Xie,Jiansheng, PY - 2009/12/3/entrez PY - 2009/12/3/pubmed PY - 2010/4/14/medline SP - 606 EP - 9 JF - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics JO - Zhonghua Yi Xue Yi Chuan Xue Za Zhi VL - 26 IS - 6 N2 - OBJECTIVE: To study the mutation of the androgen receptor gene in a family with complete androgen insensitivity syndrome and to explore the pathogenicity of the mutation. METHODS: PCR and DNA sequencing were performed to study the AR gene mutation; Mbo I restriction endonuclease was used to detect existence of the mutation in normal controls; conservation of the mutation site was analyzed by comparison of the sequence of amino acid among different species. RESULTS: The DNA sequence of the three patients contained the same substitution of a single nucleotide on codon 681 GAG to GAT of exon 4, which located in the ligand binding domain of the AR receptor and led to substitution of glutamic acid to aspartic acid in the AR receptor. Their mother was heterozygote of E681D. E681D was not observed in the normal controls. The E681 site was extremely conservative in different species. CONCLUSION: The E681D mutation of the AR gene is a novel mutation of leading to complete androgen insensitivity syndrome. SN - 1003-9406 UR - https://www.unboundmedicine.com/medline/citation/19953479/[Mutation_analysis_of_the_androgen_receptor_gene_in_a_complete_androgen_insensitivity_syndrome_family]_ L2 - http://www.diseaseinfosearch.org/result/436 DB - PRIME DP - Unbound Medicine ER -