Title of article
A Novel Mutation in SLC7A9 Gene in Cystinuria
Author/Authors
Fazaeli, Saeedeh Department of Biology - Payam-e Noor University, Isfahan, Iran , Ashouri, Saeideh Pediatric Inherited Diseases Research Center - Research Institute for Primordial Prevention of Noncommunicable Disease and Department of Genetics and Molecular Biology - School of Medicine - Isfahan University of Medical Sciences, Isfahan, Iran , Kheirolahi, Majid Pediatric Inherited Diseases Research Center - Research Institute for Primordial Prevention of Noncommunicable Disease and Department of Genetics and Molecular Biology - School of Medicine - Isfahan University of Medical Sciences, Isfahan, Iran , Mohammadi, Mehrdad Department of Urology - Urology and Kidney Transplantation Research Center - School of Medicine - Isfahan University of Medical Sciences, Isfahan, Iran , Fazilati, Mohammad Department of Biology - Payam-e Noor University, Isfahan, Iran
Pages
4
From page
138
To page
141
Abstract
Introduction. Cystinuria is an inherited disorder affecting luminal
transport of cystine and dibasic amino acids. Because of the poor
solubility of cystine in urine, stone formation in the kidney occurs
frequently. Cystinuria is associated with mutations in the SLC3A1
and SLC7A9 genes. Despite the population-specific distribution of
mutations in the SLC7A9 genes, there are few genetic data reported
for cystinuric patients from the Middle East.
Materials and Methods. Exon 4 of the SLC7A9 gene was sequenced
in 21 patients with cystinuria, using the polymerase chain reaction
and sequencing methods.
Results. A new variation in exon 4 of the SLC7A9 gene was
identified, which was insertion of 1 adenine nucleotide between
2 cytosine nucleotides in position c.272-273 insA.
Conclusions. It seems to be important since it causes frame shift
and it may be an important cause to make disease.
Keywords
SLC7A9 gene , gene mutations , Cystinuria
Journal title
Iranian Journal of Kidney Diseases (IJKD)
Serial Year
2017
Record number
2517728
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