The use of real‐time PCR technique in the detection of novel protein 4.2 gene mutations that coexist with thalassaemia alpha in a single patient

Maciąg, Monika; Adamowicz-Salach, Anna; Siwicka, Alicja; Spychalska, Justyna; Burzyńska, Beata

doi:10.1111/j.1600-0609.2009.01289.x

Cited by 4 publications

(2 citation statements)

References 18 publications

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“…By conducting genomic DNA sequencing, they found a homozygous mutation, 1747G>T, in exon 11 of EPB42 , and the proband’s mother was heterozygous for mutations. Maciag et al [43] observed that the relative mRNA levels of EPB42 were decreased by approximately 45% in a Polish α-thalassemia patient with a protein 4.2 mutation. They identified 2 mutations by sequencing: G1701A in exon 10 EPB42 , leading to an A567T mutation, and IVS2nt+6T>A in EPB42 , decreasing splice site activity and leading to mRNA instability.…”

Section: Molecular Genetic Mechanisms Of Five Hs-related Genesmentioning

confidence: 99%

Molecular Genetic Mechanisms of Hereditary Spherocytosis: Current Perspectives

Liao

Deng

et al. 2018

Acta Haematol

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With the widespread use of genetic diagnostic technologies, many novel mutations have been identified in hereditary spherocytosis (HS)-related genes, including SPTA1, SPTB, ANK1, SLC4A1, and EPB42. However, mutations in HS-related genes are dispersed and nonspecific in the diagnosis of some HS patients, indicating significant heterogeneity in the molecular deficiency of HS. It is necessary to provide the molecular and genetic characteristics of these 5 genes for clinicians to examine HS. Here, we reviewed the recent proposed molecular genetic mechanisms of HS.

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Section: Molecular Genetic Mechanisms Of Five Hs-related Genesmentioning

confidence: 99%

Molecular Genetic Mechanisms of Hereditary Spherocytosis: Current Perspectives

Liao

Deng

et al. 2018

Acta Haematol

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“…At present, SDS-PAGE is commonly used to analyse membrane proteins, however it is not sensitive to HS patients or asymptomatic patients. Compared with SDS-PAGE, quantitative fluorescence real-time PCR has a higher sensitivity and specificity, and direct sequencing can identify mutation sites of HS after extracting genomic DNA and conducting PCR ( 12 , 13 ).…”

Section: Discussionmentioning

confidence: 99%

α‑thalassaemia combined with hereditary spherocytosis in the same patient

Liao

Deng

et al. 2017

Exp Ther Med

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A family of four from the Guangxi Zhuang Autonomous Region of China, including a child with α-thalassaemia and hereditary spherocytosis (HS), underwent laboratory identification, and genetic analysis. After harvesting peripheral blood samples from the child patient and his family members, GAP-polymerase chain reaction (PCR) and reverse dot-blot tests were used to identify thalassaemia genotypes. After amplifying exons and the adjacent introns of solute carrier family 4 member 1 (Diego blood group) (SLC4A1), ankyrin 1, spectrin α erythrocytic 1, spectrin β erythrocytic and erythrocyte membrane protein band 4.2 by PCR, DNA sequencing was utilised to detect gene mutations of HS. The thalassaemia gene of the child patient was -α3.7/αα and identical to the genotype of his mother. DNA testing of HS identified two mutation sites on the SLC4A1 gene: Exon 3 c.113A>C (Asp 38 Ala) and intron 7 c.609+86G>A. The father and older sister of the patient also had the same mutations. Due to the mutual interference with disorders of haemoglobin synthesis and erythrocyte membrane defects of laboratory results, it is difficult to diagnose HS when it coexists with thalassaemia. When clinical manifestations and laboratory results cannot be explained by a single haemolytic anaemia, the possibility of combining with another haemolytic anaemia should be considered. Thus, it is necessary to perform pedigree investigation and genetic analyses for a final diagnosis.

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