Rapid detection of solute carrier family 4, member 1 (SLC4A1) mutations and polymorphisms by high-resolution melting analysis

被引：10
|
作者：
Nettuwakul, Choochai [1 ]
Sawasdee, Nunghathai [1 ]
Yenchitsomanus, Pa-thai [1 ,2 ]
机构：
[1] Mahidol Univ, Div Med Mol Biol, Dept Res & Dev, Fac Med,Siriraj Hosp, Bangkok 10700, Thailand
[2] NSTDA, Med Biotechnol Unit, Natl Ctr Genet Engn & Biotechnol BIOTEC, Bangkok, Thailand
来源：
CLINICAL BIOCHEMISTRY | 2010年 / 43卷 / 4-5期
关键词：
Solute carrier family 4 member A; SLC4A1; Anion exchanger 1; AE1; Band; 3; Spherocytosis; Ovalocytosis; Distal renal tubular acidosis; dRTA; Real-time PCR; Single nuclectide polymorphism; SNP; Mutation; High-resolution melting; HRM analysis; RENAL TUBULAR-ACIDOSIS; ANION-EXCHANGER-1; MUTATIONS; ACTIVATING MUTATIONS; AUTOSOMAL-DOMINANT; RECEPTOR GENE; AE1; EXCHANGER; BAND-3; IDENTIFICATION; VALIDATION;
D O I：
10.1016/j.clinbiochem.2009.12.010
中图分类号：
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号：
1001 ;
摘要：
Objective: The objective of this study is to develop and evaluate a high-resolution melting (HRM) method for detection of SLC4A1 Mutations and polymorphisms. Design and methods: The HRM method was optimized for detection of 18 known SLC4A1 variants. It was then used for analysis of 16 blind DNA samples highly enriched with two common mutations, Southeast Asian ovalocytosis (SAO) and band 3 Bangkok 1 (G701D), to compare the results with that of the conventional procedures. Results: The HRM method was able to detect all IS SLC4A1 variants. In the samples in which homozygous wild-type and homozygous variant could not be distinguished by difference plots, they were spiked with a sample carrying known homozygous genotype, resulting in their clear differentiation. The HRM method had 100% efficiency for detection of mutations in the blind DNA samples, when compared with that of the conventional techniques. Conclusions: The developed HRM method is efficient and reproducible for detection of SLC4A1 mutations and polymorphisms. (C) 2009 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.
引用
收藏
页码：497 / 504
页数：8
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