A new β(0)-thalassemia mutation (codon 102, AAC\textgreaterATCAC) in coexistence with a heterozygous P4.2 Nippon gene. Adhiyanto, C., Yamashiro, Y., Hattori, Y., Nitta, T., Hino, M., Matar, M., Takagi, F., & Kimoto, M. Hemoglobin, 37(3):227–240, May, 2013. MAG ID: 2043982028doi abstract bibtex A new β-thalassemia (β-thal) frameshift mutation was found at codon 102 (AAC\textgreaterATCAC) in a 17-year-old Japanese male and his 14-year-old sister. Both demonstrated a more severe phenotype than the usual β-thal minor with mild hemolytic involvement. No mRNA derived from the thalassemic allele, or βTmRNA, was detected in the sequencing analysis of the whole mRNA (cDNA). However, the βTmRNA from the whole βmRNA was specifically amplified by amplification refractory mutation system (ARMS), and was actually found to be present. Furthermore, quantitative polymerase chain reaction (q-PCR) demonstrated a negligible amount of βTmRNA. Thus, their more severe phenotype was not caused by the “dominant type” β-thal in which a considerable amount of the βTmRNA would be expected. In fact, our proband had a total βmRNA level that was mostly normal. Thus, the cause of a β-thal phenotype by the frameshift mutation was ascribed to the reduced amount of mRNA. We further searched for the cause of their severe phenotype. However,...
@article{adhiyanto_new_2013,
title = {A new β(0)-thalassemia mutation (codon 102, {AAC}{\textgreater}{ATCAC}) in coexistence with a heterozygous {P4}.2 {Nippon} gene.},
volume = {37},
doi = {10.3109/03630269.2013.777847},
abstract = {A new β-thalassemia (β-thal) frameshift mutation was found at codon 102 (AAC{\textgreater}ATCAC) in a 17-year-old Japanese male and his 14-year-old sister. Both demonstrated a more severe phenotype than the usual β-thal minor with mild hemolytic involvement. No mRNA derived from the thalassemic allele, or βTmRNA, was detected in the sequencing analysis of the whole mRNA (cDNA). However, the βTmRNA from the whole βmRNA was specifically amplified by amplification refractory mutation system (ARMS), and was actually found to be present. Furthermore, quantitative polymerase chain reaction (q-PCR) demonstrated a negligible amount of βTmRNA. Thus, their more severe phenotype was not caused by the “dominant type” β-thal in which a considerable amount of the βTmRNA would be expected. In fact, our proband had a total βmRNA level that was mostly normal. Thus, the cause of a β-thal phenotype by the frameshift mutation was ascribed to the reduced amount of mRNA. We further searched for the cause of their severe phenotype. However,...},
number = {3},
journal = {Hemoglobin},
author = {Adhiyanto, Chris and Yamashiro, Yasuhiro and Hattori, Yukio and Nitta, Takenori and Hino, Minako and Matar, Maryam and Takagi, Fumiya and Kimoto, Masafumi},
month = may,
year = {2013},
doi = {10.3109/03630269.2013.777847},
pmid = {23600595},
note = {MAG ID: 2043982028},
pages = {227--240},
}
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