Mutational Analysis and Genotype Investigation of Less Known Gaucher Mutations through Haplotype Analysis in Iranian Gaucher Patients.

IF 1.5 Q3 MEDICINE, RESEARCH & EXPERIMENTAL International Journal of Molecular and Cellular Medicine Pub Date : 2023-01-01 DOI:10.22088/IJMCM.BUMS.12.1.40
Negar Sardarpour, Hamideh Bagherian, Fatemeh Zafarghandi Motlagh, Tina Shirzadeh, Sadaf Asnavandi, Shahrzad Younesikhah, Shadab Salehpour, Aria Setoodeh, Mohammad Reza Alaei, Sirous Zeinali
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Abstract

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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通过单体型分析对伊朗戈谢患者中鲜为人知的戈谢突变进行突变分析和基因型调查。
戈谢病(GD)是最常见的溶酶体储存障碍,由葡萄糖脑苷酶(GBA)缺乏引起,GBA导致葡萄糖脑苷积累。到目前为止,GBA基因已有500多个突变。在这项研究中,我们旨在通过单倍型分析来更多地研究鲜为人知的突变的基因型,以解释其致病遗传。来自9个不同家庭的8名患者和3名携带者参与了这项研究。对GBA基因的所有外显子进行了DNA测序,并对突变的致病性进行了研究。利用GBA基因连锁STR标记,在一些家族中确定了等位基因的分离。总共确定了六种不同的突变。分别有5名和3名患者被鉴定为纯合型和复合杂合型突变,3名参与者也被鉴定为携带者。最常见的突变是c.1448 T>c和RecNcil,然而,发现了三种不太常见的突变(即c.1223 c>T、c.1315 A>G和c.1214 G>c)。总之,我们评估了伊朗患者的六种不同突变,并通过连锁分析阐明了三种鲜为人知的突变的遗传性。
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期刊介绍: The International Journal of Molecular and Cellular Medicine (IJMCM) is a peer-reviewed, quarterly publication of Cellular and Molecular Biology Research Center (CMBRC), Babol University of Medical Sciences, Babol, Iran. The journal covers all cellular & molecular biology and medicine disciplines such as the genetic basis of disease, biomarker discovery in diagnosis and treatment, genomics and proteomics, bioinformatics, computer applications in human biology, stem cells and tissue engineering, medical biotechnology, nanomedicine, cellular processes related to growth, death and survival, clinical biochemistry, molecular & cellular immunology, molecular and cellular aspects of infectious disease and cancer research. IJMCM is a free access journal. All open access articles published in IJMCM are distributed under the terms of the Creative Commons Attribution CC BY. The journal doesn''t have any submission and article processing charges (APCs).
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