Report of SLC3A1/rBAT gene mutations in Iranian cystinuria patients: A direct sequencing study | Zendy

Majid Kheirollahi | Zendy; Samaneh Markazi | Zendy; Abbas Doosti | Zendy; Mehrdad Mohammadi Sichani | Zendy

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Report of SLC3A1/rBAT gene mutations in Iranian cystinuria patients: A direct sequencing study

Author(s) -

Majid Kheirollahi,

Samaneh Markazi,

Abbas Doosti,

Mehrdad Mohammadi Sichani

Publication year - 2017

Publication title -

journal of research in medical sciences

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.568

H-Index - 39

eISSN - 1735-7136

pISSN - 1735-1995

DOI - 10.4103/1735-1995.202149

Subject(s) - cystinuria , genetics , exon , nonsynonymous substitution , missense mutation , gene , medicine , mutation , population , biology , cysteine , biochemistry , enzyme , genome , cystine , environmental health

Background: Considering a few studies on the genetic basis of the cystinuria in the Middle East and the population-specific distribution of mutations in the SLC3A1, we tried to find genetic variants in three exons (1, 3, and 8) of SLC3A1. Materials and Methods: In this study, exons 1, 3, and 8 of SLC3A1 gene of 25 unrelated cystinuria patients searched for genetic variations by polymerase chain reaction and sequencing. Results: There were five different variations in our studied population. We found one mutation in the SLC3A1 gene including missense variant M467K and identified three polymorphisms: nonsynonymous variant G38G, c. 610 + 169C>T and c. 610 + 147C>G within the SLC3A1 gene, and one new variant. Conclusion: Our results confirm that cystinuria is a heterogeneous disorder at the molecular level and more studies are needed to identify the distribution and frequency of mutations causing cystinuria in the Iranian population

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