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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...

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Autores principales: Sardarpour, Negar, Bagherian, Hamideh, Zafarghandi Motlagh, Fatemeh, Shirzadeh, Tina, Asnavandi, Sadaf, Younesikhah, Shahrzad, Salehpour, Shadab, Setoodeh, Aria, Alaei, Mohammad Reza, Zeinali, Sirous
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Babol University of Medical Sciences 2023
Materias:
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.
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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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