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High‐resolution melting analysis for detection of fusion allele of FUT2
Electrophoresis ( IF 2.9 ) Pub Date : 2020-10-31 , DOI: 10.1002/elps.202000241
Mikiko Soejima 1 , Yoshiro Koda 1
Affiliation  

The secretor status of ABH antigens, determined by FUT2 polymorphisms, affects susceptibility to various infectious diseases. In addition to many SNPs responsible for the nonsecretor phenotype, five nonfunctional alleles (se) resulting from copy number variations have been reported. One of the five alleles generated by an unequal crossover between FUT2 and a pseudogene (SEC1), is sefus. This allele may be misidentified as a functional allele if only common inactivating SNPs are genotyped because it contains the 3ʹ region of the functional FUT2. Therefore, accurate detection of sefus is desirable. For this purpose, a high‐resolution melting (HRM) analysis is developed for detection of sefus in which a 284bp fragment of SEC1 and sefus but not FUT2, are amplified. This HRM analysis detected sefus reliably. Thus, an initial screening or prescreening for sefus using HRM analysis seems to be useful for association studies of FUT2.

中文翻译:

用于检测 FUT2 融合等位基因的高分辨率熔解分析

FUT2多态性决定的 ABH 抗原的分泌状态影响对各种传染病的易感性。除了许多负责非分泌表型的 SNP 外,还报道了由拷贝数变异引起的五个非功能性等位基因 ( se )。由FUT2和假基因 ( SEC1 )之间的不等交叉产生的五个等位基因之一是se fus。如果仅对常见的失活 SNP 进行基因分型,则该等位基因可能会被错误地识别为功能性等位基因,因为它包含功能性FUT2的 3ʹ 区域。因此,准确检测se fus是可取的。为此,开发了高分辨率熔解 (HRM) 分析来检测se fus,其中SEC1se fus的 284bp 片段被放大,但FUT2没有被放大。该 HRM 分析可靠地检测了se fus。因此,使用 HRM 分析初步筛选或预筛选se fus似乎对FUT2 的关联研究有用。
更新日期:2020-10-31
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