Objective: To explore the serological characteristics and molecular basis for an individual with para-Bombay phenotype.
Methods: Blood type of the proband was determined with routine serological methods. Exons 6 and 7 of the ABO gene and coding regions of the FUT1 and FUT2 genes were amplified by PCR and sequenced.
Results: The para-Bombay phenotype was confirmed to be of Ah-secretion type. The genotype of the individual was determined as A102/O01. Position 328 of the FUT1 gene was mutated from A to G, resulting in replacement of Alanine (Ala) at position 110 by Threonine (Thr).
Conclusion: The G to A mutation of nt328 of the FUT1 gene probably underlies the para-Bombay phenotype in this individual.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2017.03.028 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Identification of two novel variants, c.-35A>T and c.[-35A>T, 725T>G], in the FUT1 gene in a patient exhibiting the para-Bombay phenotype.
Transfusion
December 2024
Graduate Program in Biomedical Sciences, Faculty of Allied Health Sciences, Thammasat University, Pathumtani, Thailand.
Background: Reduced or absent H antigens on red cells with the (para-)Bombay phenotype can arise from FUT1 gene mutations, impacting the structure and function of 1,2-L-fucosyltransferase 1 (1,2-L-FucT1). Here, we identified the novel mutations in one patient displaying the para-Bombay phenotype and examined the potential molecular mechanisms underlying this phenotype.
Materials And Methods: ABH antigens and antibodies were detected in patient's blood and saliva using serological methods.
Association of Secretor And Nonsecretor Status with Lewis Phenotyping Among Blood Donors: A Prospective Observational Study from Tertiary Care Hospital.
Indian J Hematol Blood Transfus
October 2024
Department of Transfusion Medicine, JIPMER (Jawaharlal Institute of Postgraduate Medical Education and Research), Puducherry, India.
Article Synopsis
- The expression of ABO (ABH) antigens on red blood cells and the secretion of ABH substances in bodily fluids are controlled by different genes, with the Secretor gene determining secretor status.
- A study conducted on 318 blood donors in South India from Jan 2020 to Dec 2021 found that 72% were secretors while 28% were nonsecretors, revealing a clear relationship between secretor status and Lewis phenotyping.
- The findings suggest that knowing the Lewis phenotype can help identify blood group secretor status, which is crucial for resolving discrepancies in ABO blood groups in medical settings.
A novel FUT1*932A allele associated with the para-Bombay A phenotype in a Chinese individual.
Transfusion
August 2024
Department of Transfusion Medicine, Bengbu Blood Center, Bengbu, China.
Experience from an immunohematology reference testing center.
Asian J Transfus Sci
December 2022
Rotary TTK Blood Center, Bangalore Medical Services Trust, Bengaluru, Karnataka, India.
Blood Centres in India lack infrastructure to investigate immunohematology problems. Reference Testing Center (RTC) was established in 2014 to investigate Immunohematological problem as it is not possible for small blood centers to go for complete immunohematology work up due to lack of financial and technical resources in remote and rural areas. Objective of this study is to share our experience as RTC of past 6 years so that more RTC are established across Indian subcontinent.
View Article and Find Full Text PDF[Serology and genomic analysis of para-Bombay individuals in a hospital in Hunan Province].
Zhonghua Yu Fang Yi Xue Za Zhi
December 2023
Department of Blood Transfusion, Third Xiangya Hospital, Central South University, Changsha 410013, China.
To investigate the serological and genetic characteristics of para-Bombay patients in a hospital in Hunan Province. A retrospective analysis was conducted on the blood type results of 175 439 hospitalized patients born in Hunan Province from the Third Xiangya Hospital, Central South University from 2016 to 2021. Phenotypes of ABO blood group was analyzed by blood group serology, and molecular biological methods were used to analyze the genotype, including genotyping by polymerase chain reaction-sequence specific primers (PCR-SSP) and fucosyltransferase 1 ( and fucosyltransferase 2 ( gene sequencing.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!