约旦胱氨酸尿症患者中SLC7A9基因突变分析。
Analysis of SLC7A9 gene mutations among Jordanian patients with cystinuria.
作者信息
Halalsheh Omar M, Al-Shehabat Mustafa A, Al-Ghazo Moh''D A, Al-Ghalayini Ibrahim F, Altal Yaman A, Al-Okour Radwan, Altal Omar
机构信息
Department of General Surgery and Urology, Faculty of Medicine, Jordan University of Science and Technology, Irbid, 22110, Jordan.
Department of Physiology and Biochemistry, Faculty of Medicine, Jordan University of Science and Technology, Irbid, 22110, Jordan.
出版信息
Ann Med Surg (Lond). 2021 Feb 25;63:102182. doi: 10.1016/j.amsu.2021.102182. eCollection 2021 Mar.
BACKGROUND
Cystinuria is known as a heritable disorder affecting the cysteine reabsorption by renal system as well as the reabsorption of dibasic amino acids. The main objectives of the present study were to identify genetic mutations in SLC7A9 gene associated with cystinuria.
METHODS
A cross sectional study design was conducted. A total of 28 patients diagnosed with cystinuria were included. Molecular techniques were applied to identify genetic mutations in SLC7A9 gene.
RESULTS
The mean age of study participants was 31.57 ± 2.88 years, and slightly more than two thirds of participants were males. Mutations of SLC 7A9 gene showed that the majority of cases (57.1%) were homogeneous, (7.1%) heterogeneous, and slightly more than one third of patients had no mutations. There was no statistically significant relationship between mutations for the SLC7A9 gene and gender (p = 0.249).
CONCLUSION
Mutations in the SLC7A9 gene are prevalent and can be used as molecular tools to diagnose cystinuria.
背景
胱氨酸尿症是一种遗传性疾病，影响肾脏系统对半胱氨酸的重吸收以及二碱基氨基酸的重吸收。本研究的主要目的是鉴定与胱氨酸尿症相关的SLC7A9基因中的基因突变。
方法
采用横断面研究设计。共纳入28例诊断为胱氨酸尿症的患者。应用分子技术鉴定SLC7A9基因中的基因突变。
结果
研究参与者的平均年龄为31.57±2.88岁，略超过三分之二的参与者为男性。SLC 7A9基因突变显示，大多数病例（57.1%）为纯合突变，（7.1%）为杂合突变，略超过三分之一的患者无突变。SLC7A9基因突变与性别之间无统计学显著关系（p = 0.249）。
结论
SLC7A9基因突变普遍存在，可作为诊断胱氨酸尿症的分子工具。
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