Specific and straightforward molecular investigation of β-thalassemia mutations in the Malaysian Malays and Chinese using direct TaqMan genotyping assays

Kho, Siew Leng; Chua, Kek Heng; George, Elizabeth; Tan, Ji

doi:10.4238/2013.february.28.4

Cited by 3 publications

(4 citation statements)

References 11 publications

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“…In addition to Hb E, the β-globin mutations reported in this study, i.e. CD 17 (A-T), CD 41/42 (-TTCT), and nucleotide -28 (A-G), were also similar to those reported in neighboring countries [5,[19][20][21] . Interaction of these abnormal genes can lead to several complex thalassemia syndromes, reflecting the serious health burden within the country.…”

Section: Discussionsupporting

confidence: 62%

Molecular Heterogeneity of Thalassemia among Pregnant Laotian Women

et al. 2015

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Background and Aims: A pilot screening program for thalassemia was initiated in the Lao People's Democratic Republic. This study aimed to describe the genotype diversity and hematologic features of thalassemia among the participating pregnant women. Methods: Blood samples of 411 pregnant Laotian women were collected. Hemoglobin (Hb) profiles were determined using a capillary zone electrophoresis system. Mutations of α- and β-globin genes were investigated using a polymerase chain reaction and related techniques. Results: As many as 26 different thalassemia genotypes including non-transfusion-dependent thalassemia, i.e. Hb E-β-thalassemia, Hb H, and EA Bart's diseases, were identified. A variety of phenotypic expressions of hematologic features and Hb profiles were observed, including an unusual phenotype of Hb E-β⁰ thalassemia with 89.1% Hb E, 1.6% Hb F, and 9.3% Hb A₂. Conclusions: The remarkable genotype-phenotype diversity indicates a need for careful laboratory interpretation in order to provide appropriate genetic counseling and care to the Laotian population.

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Section: Discussionsupporting

confidence: 62%

Molecular Heterogeneity of Thalassemia among Pregnant Laotian Women

et al. 2015

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“…In this context, the TaqMan ® genotyping assay represents a reliable, sensitive and cost-effective diagnostic method allowing the discrimination of single nucleotide polymorphisms [ 34 , 35 ]. Thus, the TaqMan ® genotyping assay is suitable for large-scale screenings and high-throughput analyses.…”

Section: Discussionmentioning

confidence: 99%

“…TaqMan ® genotyping assays were designed for characterization of β-thalassemia mutations in the Malays and Kingdom of Saudi Arabia [ 14 , 34 – 36 ]. Also, an analogous TaqMan ® assay was developed and reported to be effective for detection of the Sardinian Wilson’s mutation [ 37 ].…”

Section: Discussionmentioning

confidence: 99%

Postnatal and non-invasive prenatal detection of β-thalassemia mutations based on Taqman genotyping assays

et al. 2017

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The β-thalassemias are genetic disorder caused by more than 200 mutations in the β-globin gene, resulting in a total (β0) or partial (β+) deficit of the globin chain synthesis. The most frequent Mediterranean mutations for β-thalassemia are: β039, β+IVSI-110, β+IVSI-6 and β0IVSI-1. Several molecular techniques for the detection of point mutations have been developed based on the amplification of the DNA target by polymerase chain reaction (PCR), but they could be labor-intensive and technically demanding. On the contrary, TaqMan® genotyping assays are a simple, sensitive and versatile method suitable for the single nucleotide polymorphism (SNP) genotyping affecting the human β-globin gene. Four TaqMan® genotyping assays for the most common β-thalassemia mutations present in the Mediterranean area were designed and validated for the genotype characterization of genomic DNA extracted from 94 subjects comprising 25 healthy donors, 33 healthy carriers and 36 β-thalassemia patients. In addition, 15 specimens at late gestation (21–39 gestational weeks) and 11 at early gestation (5–18 gestational weeks) were collected from pregnant women, and circulating cell-free fetal DNAs were extracted and analyzed with these four genotyping assays. We developed four simple, inexpensive and versatile genotyping assays for the postnatal and prenatal identification of the thalassemia mutations β039, β+IVSI-110, β+IVSI-6, β0IVSI-1. These genotyping assays are able to detect paternally inherited point mutations in the fetus and could be efficiently employed for non-invasive prenatal diagnosis of β-globin gene mutations, starting from the 9th gestational week.

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“…In the area of result interpretation, genotyping using Bio‐Rad CFX manager shows quadrant separation in the allelic discrimination plots that are different from the scatter plots in the studies carried out by Kho et al . . Quadrant separation genotypes the samples into four different columns that consist of wild‐type, heterozygous, homozygous and DNA blank.…”

Section: Discussionmentioning

confidence: 99%