Kompetitive allele specific PCR (KASP) based genotyping of sickle gene in the selected sub-ethnic tribal population of Gujarat and Madhya Pradesh.

IF 2.3 4区医学 Q2 HEMATOLOGY

Expert Review of Hematology Pub Date : 2025-06-01 Epub Date: 2025-05-08 DOI:10.1080/17474086.2025.2499530

Urvi Budhbhatti, Bhumika Prajapati, Bhagirath Dave, Aman Tripathi, Chaitanya Joshi, Madhvi Joshi

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引用次数: 0

Abstract

Background: Indian tribal population is more vulnerable to sickle cell disease (SCD), an autosomal recessive disease caused by a single A>T transversion mutation in the HBB gene. Current study aims to develop a novel Kompetitive allele specific PCR (KASP) assay for genotyping of sickle gene in selected tribal communities of India.

Patients and methods: The study was conducted from 2021 to 2023 involving 583 self-declared healthy individuals from four tribal communities, i.e. Korku, Kol, and Sahariya of Madhya Pradesh and Dongri bhil of Gujarat. The sickle cell genotyping was performed using KASP and PCR-RFLP methods and further validated by Sanger sequencing. Various hematological and biochemical parameters were also studied and compared for their association with identified genotypes.

Results: Prevalence of sickle cell trait (SCT) was observed as 4.67%, 9.33%, and 16.41% in Kol, Korku, and Dongri bhil, respectively. The SCD prevalence of 0.7% was observed in Dongri bhil. The KASP assay reflects as a novel, high-throughput, and cost-effective method for effective screening. RBC, folic acid, fetal Hb (HBF), and bilirubin have shown significant association with sickle gene mutation.

Conclusions: KASP assay offers a rapid, precise, and cost-effective method for screening in tribal populations, which can help in early identification, management, and elimination of disease.

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基于竞争等位基因特异性PCR （KASP）的古吉拉特邦和中央邦亚民族部落人群镰刀基因分型研究

背景：印度部落人群更易患镰状细胞病（SCD），这是一种常染色体隐性遗传病，由HBB基因的单个a >T逆转突变引起。本研究旨在建立一种新的竞争性等位基因特异性PCR （KASP）方法，用于在印度选定的部落社区中进行镰刀基因分型。患者和方法：研究于2021年至2023年进行，涉及来自中央邦Korku、Kol和撒哈拉亚四个部落社区以及古吉拉特邦Dongri bhil的583名自称健康的个体。采用KASP和PCR-RFLP方法进行镰状细胞基因分型，并通过Sanger测序进一步验证。研究并比较了各种血液学和生化参数与所鉴定基因型的关系。结果：镰状细胞特征（SCT）在Kol、Korku和Dongri地区的患病率分别为4.67%、9.33%和16.41%。东日山SCD患病率为0.7%。KASP试验是一种新颖、高通量、低成本的有效筛选方法。红细胞、叶酸、胎儿血红蛋白（HBF）和胆红素与镰状基因突变有显著相关性。结论：KASP法为部落人群的筛查提供了一种快速、精确和具有成本效益的方法，有助于早期识别、管理和消除疾病。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Expert Review of Hematology HEMATOLOGY-

CiteScore

4.70

自引率

3.60%

发文量

审稿时长

6-12 weeks

期刊介绍： Advanced molecular research techniques have transformed hematology in recent years. With improved understanding of hematologic diseases, we now have the opportunity to research and evaluate new biological therapies, new drugs and drug combinations, new treatment schedules and novel approaches including stem cell transplantation. We can also expect proteomics, molecular genetics and biomarker research to facilitate new diagnostic approaches and the identification of appropriate therapies. Further advances in our knowledge regarding the formation and function of blood cells and blood-forming tissues should ensue, and it will be a major challenge for hematologists to adopt these new paradigms and develop integrated strategies to define the best possible patient care. Expert Review of Hematology (1747-4086) puts these advances in context and explores how they will translate directly into clinical practice.