Mutations in GYPB exon 5 drive the S-s-U+(var) phenotype in persons of African descent: implications for transfusion
(2003) In Transfusion 43(12). p.1738-1747- Abstract
- BACKGROUND: The S-s-U- phenotype in African Americans is due to a GYPB deletion, however the molecular basis for the S-s-U+var phenotype is poorly understood. Variable reactivity of S-s-U+var RBCs with monoclonal anti-He or by anti-U has been demonstrated, however the underlying molecular bases for this phenotype remain to be established. STUDY DESIGN AND METHODS: Hemagglutination was performed on 104 S-s- blood samples using monoclonal anti-He and anti-U. GYPB was sequenced from selected samples. Allele and exon-specific PCR analysis was used to identify wild-type and mutant alleles. RESULTS: The RBCs of 49-percent S-s- samples were identified as S-s-U+var by hemagglutination. Sequencing analysis of 41 samples revealed 1) a point mutation... (More)
- BACKGROUND: The S-s-U- phenotype in African Americans is due to a GYPB deletion, however the molecular basis for the S-s-U+var phenotype is poorly understood. Variable reactivity of S-s-U+var RBCs with monoclonal anti-He or by anti-U has been demonstrated, however the underlying molecular bases for this phenotype remain to be established. STUDY DESIGN AND METHODS: Hemagglutination was performed on 104 S-s- blood samples using monoclonal anti-He and anti-U. GYPB was sequenced from selected samples. Allele and exon-specific PCR analysis was used to identify wild-type and mutant alleles. RESULTS: The RBCs of 49-percent S-s- samples were identified as S-s-U+var by hemagglutination. Sequencing analysis of 41 samples revealed 1) a point mutation at +5 (g > t) of intron 5 that resulted in skipping of exon 5 in 34 samples; 2) two mutations (208G > T and 230C > T) caused partial skipping of exon 5 in four samples due to activation of a cryptic 3' splice site that resulted from a C > G transversion at nt251 present in all GYPB*S alleles and most GYPB*s alleles tested. Three samples were heterozygous for the mutated alleles. DISCUSSION: The S-s-U+var phenotype arises from changes in or around GYPB exon 5. The weak expression of U and in most examples, He, may be due to low levels of normal transcription of the variant gene or to posttranscriptional down regulation. (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/1126492
- author
- Storry, Jill LU ; Reid, Marion E ; Fetics, Susan and Huang, Cheng-Han
- publishing date
- 2003
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Transfusion
- volume
- 43
- issue
- 12
- pages
- 1738 - 1747
- publisher
- Wiley-Blackwell
- external identifiers
-
- pmid:14641872
- scopus:0344303481
- ISSN
- 1537-2995
- DOI
- 10.1046/j.0041-1132.2003.00585.x
- language
- English
- LU publication?
- no
- id
- 330a39dc-653a-43a7-9096-3b54c3bc18df (old id 1126492)
- date added to LUP
- 2016-04-01 16:49:47
- date last changed
- 2022-02-20 08:47:57
@article{330a39dc-653a-43a7-9096-3b54c3bc18df,
abstract = {{BACKGROUND: The S-s-U- phenotype in African Americans is due to a GYPB deletion, however the molecular basis for the S-s-U+var phenotype is poorly understood. Variable reactivity of S-s-U+var RBCs with monoclonal anti-He or by anti-U has been demonstrated, however the underlying molecular bases for this phenotype remain to be established. STUDY DESIGN AND METHODS: Hemagglutination was performed on 104 S-s- blood samples using monoclonal anti-He and anti-U. GYPB was sequenced from selected samples. Allele and exon-specific PCR analysis was used to identify wild-type and mutant alleles. RESULTS: The RBCs of 49-percent S-s- samples were identified as S-s-U+var by hemagglutination. Sequencing analysis of 41 samples revealed 1) a point mutation at +5 (g > t) of intron 5 that resulted in skipping of exon 5 in 34 samples; 2) two mutations (208G > T and 230C > T) caused partial skipping of exon 5 in four samples due to activation of a cryptic 3' splice site that resulted from a C > G transversion at nt251 present in all GYPB*S alleles and most GYPB*s alleles tested. Three samples were heterozygous for the mutated alleles. DISCUSSION: The S-s-U+var phenotype arises from changes in or around GYPB exon 5. The weak expression of U and in most examples, He, may be due to low levels of normal transcription of the variant gene or to posttranscriptional down regulation.}},
author = {{Storry, Jill and Reid, Marion E and Fetics, Susan and Huang, Cheng-Han}},
issn = {{1537-2995}},
language = {{eng}},
number = {{12}},
pages = {{1738--1747}},
publisher = {{Wiley-Blackwell}},
series = {{Transfusion}},
title = {{Mutations in GYPB exon 5 drive the S-s-U+(var) phenotype in persons of African descent: implications for transfusion}},
url = {{http://dx.doi.org/10.1046/j.0041-1132.2003.00585.x}},
doi = {{10.1046/j.0041-1132.2003.00585.x}},
volume = {{43}},
year = {{2003}},
}