Detection of Hb E mutation (β<sup>26</sup>, GAG‐AAG, Glu‐Lys) using allelic discrimination analysis

Sangkitporn, Somchai; Sangnoi, Areerat; Duangruang, S.

doi:10.1111/j.1751-553x.2007.01006.x

Cited by 3 publications

(5 citation statements)

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“…However, this SNP can be converted with ABE to a G C G (Ala) through A•T-to-G•C conversion on the opposite strand ( Fig. 6a ) to yield the HBB E6A genotype, known as the Makassar allele ( HbG ), which is thought to be non-pathogenic in both homozygous and heterozygous individuals 47 – 49 . Unfortunately, the only NGG or NGN PAMs available at this site place the target A at either protospacer position 2 or 9, respectively, outside the editing window for ABE 12 .…”

Section: Resultsmentioning

confidence: 99%

Continuous evolution of SpCas9 variants compatible with non-G PAMs

et al. 2020

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The targeting scope of Streptococcus pyogenes Cas9 (SpCas9) and its engineered variants is largely restricted to protospacer-adjacent motif (PAM) sequences containing Gs. Here, we report the evolution of three new SpCas9 variants that collectively recognize NRNH PAMs (where R = A or G and H = A, C, or T) using phage-assisted non-continuous evolution (PANCE), three new phage-assisted continuous evolution (PACE) strategies for DNA binding, and a secondary selection for DNA cleavage. The targeting capabilities of these evolved variants and SpCas9-NG were characterized in HEK293T cells using a library of 11,776 genomically integrated protospacer-sgRNA pairs containing all possible NNNN PAMs. The evolved variants mediate indel formation and base editing in human cells and enable the A•T-to-G•C base editing of a sickle-cell anemia mutation using a previously inaccessible CACC PAM. These new evolved SpCas9s, together with previously reported variants, in principle enable targeting the majority of NR PAM sequences and substantially reduce the fraction of genomic sites that are inaccessible by Cas9-based methods.

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Section: Resultsmentioning

confidence: 99%

Continuous evolution of SpCas9 variants compatible with non-G PAMs

et al. 2020

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“…Our criteria of diagnosis were HbE > 75% and < 3% hemoglobin F. It has been argued that HbEE and HbE/beta thalassaemia are overlapping syndromes and cannot be phenotyped correctly [18,36]. Correct diagnosis is the key to the optimum management.…”

Section: Discussionmentioning

confidence: 99%

“…Various hemoglobin E phenotypes were identified with respect to hemoglobin, red cell indices and hemoglobin variants (HbE + HbA 2 , Hb F, HbA or any other variant) as described in literature [6,14,18]. …”

Section: Methodsmentioning

confidence: 99%

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Hemoglobin E syndromes in Pakistani population

et al. 2012

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Background Hemoglobin E is an important hemoglobin variant with a worldwide distribution. A number of hemoglobinopathies have been reported from Pakistan. However a comprehensive description of hemoglobin E syndromes for the country was never made. This study aimed to describe various hemoglobin E disorders based on hematological parameters and chromatography. The sub-aim was to characterize hemoglobin E at molecular level. Methods This was a hospital based study conducted prospectively for a period of one year extending from January 1 to December 31, 2008. EDTA blood samples were analyzed for completed blood counts and hemoglobin variants through automated hematology analyzer and Bio-Rad beta thalassaemia short program respectively. Six samples were randomly selected to characterize HbE at molecular level through RFLP-PCR utilizing Mnl I restriction enzyme. Results During the study period, 11403 chromatograms were analyzed and Hb E was detected in 41 (or 0.36%) samples. Different hemoglobin E syndromes identified were HbEA (n = 20 or 49%), HbE/β-thalassemia (n = 14 or 34%), HbEE (n = 6 or 15%) and HbE/HbS (n = 1 or 2%). Compound heterozygosity for HbE and beta thalassaemia was found to be the most severely affected phenotype. RFLP-PCR utilizing Mnl I successfully characterized HbE at molecular level in six randomly selected samples. Conclusions Various HbE phenotypes are prevalent in Pakistan with HbEA and HbE/β thalassaemia representing the most common syndromes. Chromatography cannot only successfully identify hemoglobin E but also assist in further characterization into its phenotype including compound heterozygosity. Definitive diagnosis of HbE can easily be achieved through RFLP-PCR.

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“…Sir , I read with interest the paper by Sangkitporn et al. (2008), which describes a method for the detection of hemoglobin (Hb) E mutation (β 26 , GAG→AAG, Glu→Lys).…”

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confidence: 99%

Detection of Hb E mutation (β²⁶, GAG→AAG, Glu→Lys) using reverse dot‐blot hybridization

2009

Int J Lab Hematology

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Detection of Hb E mutation (β²⁶, GAG‐AAG, Glu‐Lys) using allelic discrimination analysis

Cited by 3 publications

References 19 publications

Continuous evolution of SpCas9 variants compatible with non-G PAMs

Continuous evolution of SpCas9 variants compatible with non-G PAMs

Hemoglobin E syndromes in Pakistani population

Detection of Hb E mutation (β²⁶, GAG→AAG, Glu→Lys) using reverse dot‐blot hybridization

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Detection of Hb E mutation (β26, GAG‐AAG, Glu‐Lys) using allelic discrimination analysis

Cited by 3 publications

References 19 publications

Continuous evolution of SpCas9 variants compatible with non-G PAMs

Continuous evolution of SpCas9 variants compatible with non-G PAMs

Hemoglobin E syndromes in Pakistani population

Detection of Hb E mutation (β26, GAG→AAG, Glu→Lys) using reverse dot‐blot hybridization

Contact Info

Product

Resources

About

Detection of Hb E mutation (β²⁶, GAG‐AAG, Glu‐Lys) using allelic discrimination analysis

Detection of Hb E mutation (β²⁶, GAG→AAG, Glu→Lys) using reverse dot‐blot hybridization