ABO discrepancy due to the para-Bombay phenotype: a case report
In this study, we aimed to determine and analyze the genetic differences of the FUT1 and FUT2 genes within an individual exhibiting the Para-Bombay phenotype. Standard serological tests were conducted to analyze the ABO phenotype. The amplification of FUT1 and FUT2 genes was conducted by polymer...
| Những tác giả chính: | , , |
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| Định dạng: | Bài viết |
| Ngôn ngữ: | English |
| Được phát hành: |
MRE Press
2023-11-01
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| Loạt: | Journal of Men's Health |
| Những chủ đề: | |
| Truy cập trực tuyến: | https://oss.jomh.org/files/article/20231130-154/pdf/JOMH2023090601.pdf |
| Tóm tắt: | In this study, we aimed to determine and analyze the genetic differences of the
FUT1 and FUT2 genes within an individual exhibiting the
Para-Bombay phenotype. Standard serological tests were conducted to analyze the
ABO phenotype. The amplification of FUT1 and FUT2 genes was
conducted by polymerase chain reaction and amplicons were sequenced. The
determination of the ABO genotype was conducted by sequencing exons 1 to
7 of the ABO gene. The Lewis phenotype was defined as Le(a−b+); Despite
this, red blood cells (RBCs) did not show signs of A, B and H antigens using the
serological method utilized in this study. However, Analyses of sequencing and
cloning demonstrated the existence of a FUT1 mutation
at position c.658C>T and an inactive allele FUT1*01N.06
(c.551_552delAG). Genetic testing for ABO blood types was subsequently
determined to be ABO*B.01/ABO*B.01 (c.297A>G; c.526C>G; c.657C>T;
c.703G>A; c.796C>A; c.803G>C; c.930G>A). Heterozygosity for indel and
missense mutation within the coding region of FUT1 are likely
to be responsible for development of the Para-Bombay phenotype. |
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| số ISSN: | 1875-6867 1875-6859 |