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Genotypic analysis of SLC4A1 A858D Mutation in Indian population associated with Distal Renal Tubular Acidosis((dRTA) coupled with Hemolytic Anemia
Gene ( IF 3.5 ) Pub Date : 2020-10-15 , DOI: 10.1016/j.gene.2020.145241
Tejashree Anil More , Prabhakar S. Kedar

Introduction

Although distinctive, distal renal tubular acidosis (dRTA) and Hereditary Spherocytosis (HS) shares a common protein, the anion exchanger1 (AE1) encoded by SLC4A1gene. In spite of this, the co-existence of dRTA and HS has rarely been observed. To date, 23 mutations have been identified in SLC4A1 gene causing both autosomal recessive (AR) and autosomal dominant (AD) forms of dRTA.

Methods

We have assessed the applicability of the High Resolution Melting curve (HRM) method for the detection of SLC4A1 (A858D) mutations in 12 Indian families having AR dRTA coupled with HS. The reliability of the HRM analysis was verified by comparing the results of the HRM method with those of conventional methods such as Polymerase Chain Reaction–Restriction Fragment-Length Polymorphism (PCR-RFLP) and Sanger sequencing thereby confirming the diagnosis.

Results

We here described the clinical, hematological and genetic data of 16 individuals from 12 families having AR dRTA coupled with HS. All patients carried homozygous SLC4A1 (A858D) mutation, whereas their family members had heterozygous A858D obtained by HRM analysis and confirmed by RFLP and Sanger sequencing.

Conclusion

Our data indicates that a missense mutation of A858D in SLC4A1 gene is the most common cause of dRTA coupled with HS in the Indian population. HRM analysis can be used as a rapid screening method for common SLC4A1 mutations that cause AR dRTA in the Indian population.



中文翻译:

印度人群远端肾小管性酸中毒(dRTA)与溶血性贫血相关的SLC4A1 A858D突变的基因型分析

介绍

尽管与众不同,但远端肾小管性酸中毒(dRTA)和遗传性球囊细胞增多症(HS)共有一个共同的蛋白质,即SLC4A1基因编码的阴离子交换子1(AE1)。尽管如此,很少观察到dRTA和HS并存。迄今为止,已在SLC4A1基因中鉴定出23种突变,导致dRTA的常染色体隐性(AR)和常染色体显性(AD)形式出现。

方法

我们评估了高分辨率熔解曲线(HRM)方法在12例AR dRTA与HS结合的印度家庭中检测SLC4A1(A858D)突变的适用性。通过将HRM方法的结果与常规方法(如聚合酶链反应-限制性片段长度多态性(PCR-RFLP)和Sanger测序)的结果进行比较,验证了HRM分析的可靠性,从而证实了诊断。

结果

我们在这里描述了来自AR dRTA和HS的12个家庭的16个个体的临床,血液学和遗传学数据。所有患者均携带纯合子SLC4A1(A858D)突变,而其家属具有通过HRM分析获得并经RFLP和Sanger测序证实的杂合性A858D。

结论

我们的数据表明,在印度人群中,SLC4A1基因中A858D的错义突变是dRTA与HS结合的最常见原因。HRM分析可用作对印度人群中引起AR dRTA的常见SLC4A1突变的快速筛选方法。

更新日期:2020-10-16
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