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Deletion of the V2 vasopressin receptor gene in two Chinese patients with nephrogenic diabetes insipidus
BACKGROUND: Congenital nephrogenic diabetes insipidus (NDI) is a rare X-linked inherited disorder characterized by the excretion of large volumes of diluted urine and caused by mutations in arginine vasopressin receptor 2 (AVPR2) gene. To investigate the mutation of AVPR2 gene in a Chinese family wi...
Autores principales: | , , , , |
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Formato: | Texto |
Lenguaje: | English |
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BioMed Central
2006
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1657029/ https://www.ncbi.nlm.nih.gov/pubmed/17101063 http://dx.doi.org/10.1186/1471-2156-7-53 |
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author | Dong, Yan Sheng, Haihui Chen, Xueru Yin, Jun Su, Qing |
author_facet | Dong, Yan Sheng, Haihui Chen, Xueru Yin, Jun Su, Qing |
author_sort | Dong, Yan |
collection | PubMed |
description | BACKGROUND: Congenital nephrogenic diabetes insipidus (NDI) is a rare X-linked inherited disorder characterized by the excretion of large volumes of diluted urine and caused by mutations in arginine vasopressin receptor 2 (AVPR2) gene. To investigate the mutation of AVPR2 gene in a Chinese family with congenital NDI, we screened AVPR2 gene in two NDI patients and eight family members by PCR amplification and direct sequencing. RESULTS: Five specific fragments, covering entire coding sequence and their flanking intronic sequences of AVPR2 gene, were not observed in both patients, while those fragments were all detected in the control subjects. Several different fragments around the AVPR2 locus were amplified step by step. It was revealed that a genomic fragment of 5,995-bp, which contained the entire AVPR2 gene and the last exon (exon 22) of the C1 gene, was deleted and a 3-bp (GAG) was inserted. Examination of the other family members showed that the mothers and the grandmother were carriers for this deletion. CONCLUSION: Our findings suggest that the two patients in a Chinese family suffering from congenital NDI had a 5,995-bp deletion and 3-bp (GAG) insertion at Xq28. The deletion contained the entire AVPR2 gene and exon 22 of the C1 gene. |
format | Text |
id | pubmed-1657029 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2006 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-16570292006-11-22 Deletion of the V2 vasopressin receptor gene in two Chinese patients with nephrogenic diabetes insipidus Dong, Yan Sheng, Haihui Chen, Xueru Yin, Jun Su, Qing BMC Genet Research Article BACKGROUND: Congenital nephrogenic diabetes insipidus (NDI) is a rare X-linked inherited disorder characterized by the excretion of large volumes of diluted urine and caused by mutations in arginine vasopressin receptor 2 (AVPR2) gene. To investigate the mutation of AVPR2 gene in a Chinese family with congenital NDI, we screened AVPR2 gene in two NDI patients and eight family members by PCR amplification and direct sequencing. RESULTS: Five specific fragments, covering entire coding sequence and their flanking intronic sequences of AVPR2 gene, were not observed in both patients, while those fragments were all detected in the control subjects. Several different fragments around the AVPR2 locus were amplified step by step. It was revealed that a genomic fragment of 5,995-bp, which contained the entire AVPR2 gene and the last exon (exon 22) of the C1 gene, was deleted and a 3-bp (GAG) was inserted. Examination of the other family members showed that the mothers and the grandmother were carriers for this deletion. CONCLUSION: Our findings suggest that the two patients in a Chinese family suffering from congenital NDI had a 5,995-bp deletion and 3-bp (GAG) insertion at Xq28. The deletion contained the entire AVPR2 gene and exon 22 of the C1 gene. BioMed Central 2006-11-14 /pmc/articles/PMC1657029/ /pubmed/17101063 http://dx.doi.org/10.1186/1471-2156-7-53 Text en Copyright © 2006 Dong et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( (http://creativecommons.org/licenses/by/2.0) ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Research Article Dong, Yan Sheng, Haihui Chen, Xueru Yin, Jun Su, Qing Deletion of the V2 vasopressin receptor gene in two Chinese patients with nephrogenic diabetes insipidus |
title | Deletion of the V2 vasopressin receptor gene in two Chinese patients with nephrogenic diabetes insipidus |
title_full | Deletion of the V2 vasopressin receptor gene in two Chinese patients with nephrogenic diabetes insipidus |
title_fullStr | Deletion of the V2 vasopressin receptor gene in two Chinese patients with nephrogenic diabetes insipidus |
title_full_unstemmed | Deletion of the V2 vasopressin receptor gene in two Chinese patients with nephrogenic diabetes insipidus |
title_short | Deletion of the V2 vasopressin receptor gene in two Chinese patients with nephrogenic diabetes insipidus |
title_sort | deletion of the v2 vasopressin receptor gene in two chinese patients with nephrogenic diabetes insipidus |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1657029/ https://www.ncbi.nlm.nih.gov/pubmed/17101063 http://dx.doi.org/10.1186/1471-2156-7-53 |
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