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Mutational Analysis and Genotype Investigation of Less Known Gaucher Mutations through Haplotype Analysis in Iranian Gaucher Patients
Gaucher's disease (GD) is the most frequent lysosomal storage disorder resulting from a deficiency of the enzyme glucocerebrosidase (GBA) which causes the accumulation of glucocerebroside. More than 500 mutations have been reported on the GBA gene so far. In this study, we aimed to investigate...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Babol University of Medical Sciences
2023
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10629722/ https://www.ncbi.nlm.nih.gov/pubmed/37942259 http://dx.doi.org/10.22088/IJMCM.BUMS.12.1.40 |
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author | Sardarpour, Negar Bagherian, Hamideh Zafarghandi Motlagh, Fatemeh Shirzadeh, Tina Asnavandi, Sadaf Younesikhah, Shahrzad Salehpour, Shadab Setoodeh, Aria Alaei, Mohammad Reza Zeinali, Sirous |
author_facet | Sardarpour, Negar Bagherian, Hamideh Zafarghandi Motlagh, Fatemeh Shirzadeh, Tina Asnavandi, Sadaf Younesikhah, Shahrzad Salehpour, Shadab Setoodeh, Aria Alaei, Mohammad Reza Zeinali, Sirous |
author_sort | Sardarpour, Negar |
collection | PubMed |
description | Gaucher's disease (GD) is the most frequent lysosomal storage disorder resulting from a deficiency of the enzyme glucocerebrosidase (GBA) which causes the accumulation of glucocerebroside. More than 500 mutations have been reported on the GBA gene so far. In this study, we aimed to investigate more on the genotype of less known mutations through haplotype analysis to explain their disease-causing inheritance. Eight patients and three carriers from nine different families were enrolled in the study. DNA sequencing of all GBA gene’s exons was performed and pathogenicity of the mutations was investigated. Using GBA gene-linked STR markers, allele segregations were determined in some families. A total of six different mutations were determined. Five and three patients were identified to carry mutations in homozygous and compound heterozygote patterns respectively, three participants also were identified as carriers. The most prevalent mutations were c.1448 T>C and RecNcil, however, three less common mutations were identified (i.e., c.1223 C>T, c.1315 A>G, and c.1214 G>C). In conclusion, we evaluated six different mutations in Iranian patients and elucidated the inheritance of the three less-known mutations by linkage analysis. |
format | Online Article Text |
id | pubmed-10629722 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Babol University of Medical Sciences |
record_format | MEDLINE/PubMed |
spelling | pubmed-106297222023-11-08 Mutational Analysis and Genotype Investigation of Less Known Gaucher Mutations through Haplotype Analysis in Iranian Gaucher Patients Sardarpour, Negar Bagherian, Hamideh Zafarghandi Motlagh, Fatemeh Shirzadeh, Tina Asnavandi, Sadaf Younesikhah, Shahrzad Salehpour, Shadab Setoodeh, Aria Alaei, Mohammad Reza Zeinali, Sirous Int J Mol Cell Med Original Article Gaucher's disease (GD) is the most frequent lysosomal storage disorder resulting from a deficiency of the enzyme glucocerebrosidase (GBA) which causes the accumulation of glucocerebroside. More than 500 mutations have been reported on the GBA gene so far. In this study, we aimed to investigate more on the genotype of less known mutations through haplotype analysis to explain their disease-causing inheritance. Eight patients and three carriers from nine different families were enrolled in the study. DNA sequencing of all GBA gene’s exons was performed and pathogenicity of the mutations was investigated. Using GBA gene-linked STR markers, allele segregations were determined in some families. A total of six different mutations were determined. Five and three patients were identified to carry mutations in homozygous and compound heterozygote patterns respectively, three participants also were identified as carriers. The most prevalent mutations were c.1448 T>C and RecNcil, however, three less common mutations were identified (i.e., c.1223 C>T, c.1315 A>G, and c.1214 G>C). In conclusion, we evaluated six different mutations in Iranian patients and elucidated the inheritance of the three less-known mutations by linkage analysis. Babol University of Medical Sciences 2023 /pmc/articles/PMC10629722/ /pubmed/37942259 http://dx.doi.org/10.22088/IJMCM.BUMS.12.1.40 Text en © The Author(s). https://creativecommons.org/licenses/by-nc/4.0/This work is published as an open access article distributed under the terms of the Creative Commons Attribution 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/). Non-commercial uses of the work are permitted, provided the original work is properly cited. |
spellingShingle | Original Article Sardarpour, Negar Bagherian, Hamideh Zafarghandi Motlagh, Fatemeh Shirzadeh, Tina Asnavandi, Sadaf Younesikhah, Shahrzad Salehpour, Shadab Setoodeh, Aria Alaei, Mohammad Reza Zeinali, Sirous Mutational Analysis and Genotype Investigation of Less Known Gaucher Mutations through Haplotype Analysis in Iranian Gaucher Patients |
title | Mutational Analysis and Genotype Investigation of Less Known Gaucher Mutations through Haplotype Analysis in Iranian Gaucher Patients |
title_full | Mutational Analysis and Genotype Investigation of Less Known Gaucher Mutations through Haplotype Analysis in Iranian Gaucher Patients |
title_fullStr | Mutational Analysis and Genotype Investigation of Less Known Gaucher Mutations through Haplotype Analysis in Iranian Gaucher Patients |
title_full_unstemmed | Mutational Analysis and Genotype Investigation of Less Known Gaucher Mutations through Haplotype Analysis in Iranian Gaucher Patients |
title_short | Mutational Analysis and Genotype Investigation of Less Known Gaucher Mutations through Haplotype Analysis in Iranian Gaucher Patients |
title_sort | mutational analysis and genotype investigation of less known gaucher mutations through haplotype analysis in iranian gaucher patients |
topic | Original Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10629722/ https://www.ncbi.nlm.nih.gov/pubmed/37942259 http://dx.doi.org/10.22088/IJMCM.BUMS.12.1.40 |
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