Biomedical subjects

Kim Hue-Roye

Publications and source records attributed to Kim Hue-Roye.

8 recordsLinked to original sources

PubMed2006

Case report and literature review: transient Inab phenotype and an agglutinating anti-IFC in a patient with a gastrointestinal problem.

BACKGROUND: The Inab phenotype is a rare deficiency of all Cromer antigens. These antigens are carried on the decay-accelerating factor (DAF, CD55) molecule that is attached to the red blood cell (RBC) membrane by a glycosylphosphatidylinositol (GPI) anchor. Although typically inherited, an acquired and transient form of the Inab phenotype also exists. A patient with the triad of transient Inab phenotype, a direct-agglutinating anti-IFC, and gastrointestinal (GI) abnormalities is reported. CASE REPORT: An 18-month-old boy with gastroesophageal reflux disease requiring a feeding tube, milk and soy intolerance, and severe growth retardation, as well as vision and hearing deficits from cytomegalovirus infection, was identified when pretransfusion testing revealed a potent panagglutinin (titer > 2000 at 4 degrees C). This antibody did not react with Dr(a-) and IFC RBCs, and the autocontrol was negative. The patient's RBCs lacked CD55 by flow cytometric techniques but had normal levels of CD59 and antigens such as Yt(a) and Emm, carried on GPI-linked proteins, thus excluding paroxysmal nocturnal hemoglobinuria. Several months after initial detection, the anti-IFC was virtually undetectable and his cells reacted weakly with anti-IFC, anti-Dr(a), and anti-CD55. RBCs from the propositus' parents and brother demonstrated normal CD55 and CD59 expression. CONCLUSION: This is the first example of a direct-agglutinating anti-IFC. The cause of the transient depression in CD55 protein (and thus Cromer system antigens) and appearance of anti-IFC remains unknown, as does the relationship between the patient's GI system abnormalities and these serologic findings.

Agglutination↗

PubMed2006

Analysis in non-human primates reveals that the ancestral Band 3 gene encodes Dib and the Band 3-Memphis phenotype.

BACKGROUND: The anion exchanger, Band 3, carries antigens in the Diego blood group system, and can carry the Band 3-Memphis phenotype. Although Di(b) is of high prevalence and Band 3-Memphis is of low prevalence in humans, it has been suggested that both are on the ancestral gene. We determined the orthologue nucleotide sequences corresponding to these two polymorphic sites, Di(a)/Di(b) (2561T > C; Leu854Pro) and Band 3-Memphis(166A > G; Lys56Glu) in several nonhuman primates. METHODS: Genomic DNA was extracted from blood samples of great apes, lesser apes, old world monkeys, new world monkeys and prosimians. PCR amplifications were done with primer pairs that were located in the flanking intronic regions of Exon 4 and Exon 19; and the amplified products were sequenced. RESULTS: Amino acid sequence alignment of nonhuman primates band 3 with that of human showed extensive homologies. In exon 4, Glu56Lys polymorphic site showed Glu similar to Band 3-Memphis type and in exon 19, Leu854Pro polymorphic site showed Pro indicating Di(b) phenotype. CONCLUSIONS: The nonhuman primates have nucleotide sequences of Di(b)(2561C) in cis to Band 3-Memphis (166G), which is consistent with the assertion that the Di(b) and Band 3-Memphis phenotype represents the ancestral Band 3 gene.

Amino Acid Sequence↗

PubMed2005

STAR: a novel high-prevalence antigen in the Scianna blood group system.

BACKGROUND: More than 20 years ago, a proband was described whose red blood cells (RBCs) typed Sc:1,-2,3. His serum sample contained an immunoglobulin G alloantibody that reacted with all RBCs tested except his own, his brother's, and those with the Sc:-1,-2 phenotype. Cloning of the SC gene allowed determination of the molecular basis associated with this novel high-prevalence antigen. STUDY DESIGN AND METHODS: Samples from frozen storage were obtained from the proband, his serologically matched brother, and 15 serologically mismatched family members. DNA was extracted, and amplified products from all 11 SC (ERMAP) exons and their flanking regions of the proband were sequenced. RESULTS: A single-nucleotide mutation was detected (139G>A) in Exon 3 that is predicted to encode a change of Amino Acid 47 from glutamic acid to lysine. The sequence analyses on samples from family members were as expected. CONCLUSIONS: The absence of the high-prevalence antigen STAR detected by the proband's antibody is likely associated with lysine at Position 47 of the Sc glycoprotein. This amino acid change is located on the extracellular portion of HERMAP, 10 residues upstream from the polymorphism associated with Sc1 and Sc2 (Gly57Arg). STAR expands the Sc blood group system to five antigens and has been assigned the ISBT Number 013005 (SC5).

Antigens, Surface↗

PubMed2005

A flexible array format for large-scale, rapid blood group DNA typing.

BACKGROUND: Typing for blood group antigens is currently performed by hemagglutination. The necessary reagents are becoming costly and limited in availability, and the methods are labor-intensive. The purpose of this study was to determine the feasibility of the use of large-scale DNA analysis in a microarray as a substitute for blood group typing. STUDY DESIGN AND METHODS: DNA, extracted from blood samples that had been phenotyped for some of the red blood cell antigens, was analyzed for selected blood group alleles by bead array (BeadChip, (BioArray Solutions Ltd., Warren, NJ) Illumina) [corrected] and by manual polymerase chain reaction (PCR)-based assays. Selected alleles were identified by enzyme-mediated elongation of probes, which were on color-encoded beads assembled into arrays on silicon chips. The performance of a prototype BeadChip (BioArray Solutions Ltd., Warren, NJ) [corrected] (BLOOD-1) containing single-nucleotide polymorphisms (SNPs) for FYA/B, FY-GATA, DOA/B, COA/B, LWA/B, DIA/B, and SC1/SC2 was verified with DNA from serologically characterized donors. It was then used to analyze more than 400 samples of partially defined phenotype. Samples from Chinese, Ashkenazi, and Thai donors (total n = 227) were tested with BLOOD-1. An expanded BeadChip (BioArray Solutions Ltd., Warren, NJ) [corrected] with a total of 18 SNPs (36 alleles; SNPs in BLOOD-1 and M/N, S/s, Lu(a)/Lu(b), K/k, FY265[for the Fy(X) polymorphism], Jk(a)/Jk(b), DO323[for Hy], DO350[for Jo(a)], and HgbS) was then evaluated with a subset of previously tested samples from Chinese, Ashkenazi, and New York blood donors (127) and an additional set of samples from Israeli donors (total n = 188). RESULTS: Results obtained by BeadChip (BioArray Solutions Ltd., Warren, NJ) [corrected] analysis were concordant with those obtained with the manual PCR-restriction fragment length polymorphism, allele-specific PCR, and hemagglutination assays. The frequencies of the alleles in the samples from different ethnic panels were within the expected ranges; however, two new DO alleles were discovered. CONCLUSION: It has been shown that microarray technology can be used to type DNA and detect new alleles in donor cohorts.

Alleles↗

PubMed2003

GUTI: a new antigen in the Cromer blood group system.

BACKGROUND: The Cromer blood group system consists of seven high-incidence and three low-incidence antigens carried on decay-accelerating factor (DAF). This report describes the identification and characterization of a new Cromer high-incidence antigen, named GUTI. STUDY DESIGN AND METHODS: RT-PCR and sequence analysis were performed on cDNA prepared from a Chilean donor whose serum contained the alloantibody (anti-GUTI). Based on the observed point mutation, a PCR-RFLP assay using MaeII was developed. To map the epitope, DAF-deletion mutants were tested by immunoblotting with anti-GUTI. RESULTS: Sequence analysis revealed a substitution of 719G>A in DAF in the proband. The proband's parents and two daughters were heterozygotes for 719G>A, one sister whose RBCs typed GUTI- was homozygous for 719A, and one sister had the wild-type DAF (719G). Seven additional heterozygote samples were identified among 214 Chileans. No heterozygotes were found in 197 New York donors. Analysis using DAF-deletion mutants showed the antigenic determinant to be within short consensus repeat (SCR) 4. CONCLUSION: This study describes a novel high- incidence antigen (GUTI) in the Cromer blood group system characterized by the amino acid arginine at position 206 in SCR4 of DAF. The GUTI-negative proband has a substitution mutation that predicts for histidine at this position.

Adult↗

PubMed2003

DAK, a new low-incidence antigen in the Rh blood group system.

BACKGROUND: Some low-incidence antigens in the Rh blood group system (e.g., VS, Rh32, FPTT) are expressed by more than one Rh complex. We describe a new low-incidence antigen that is present on RBCs with the partial D phenotypes, DIIIa or DOL, on RN RBCs and on one example of STEM+S RBCs. STUDY DESIGN AND METHODS: Standard hemagglutination testing was performed with two sera that agglutinated DIIIa RBCs on our in-house antibody identification panel. DNA-based assays were performed on selected samples. RESULTS: RBCs with the DIIIa (n = 31), DOL (n = 5), or RN (n = 10) phenotype were agglutinated by both sera, as were RBCs from one STEM+S person. Reactivity with RBCs of either DIIIa or DOL phenotypes was stronger than with RN RBCs and could not be separated by adsorption and elution. CONCLUSION: An antibody, anti-DAK, which recognizes a novel low-incidence antigen that is more strongly expressed on DIIIa and DOL RBCs than on RN RBCs is described. The antibody agglutinated RBCs from 4 percent of D+ African American blood donors in New York. The antigen, DAK, has been assigned the ISBT number RH54 (004.054).

Adolescent↗

PubMed2002

Two new molecular bases for the Dombrock null phenotype.

Red blood cells (RBCs) with the Do(null) phenotype lack all antigens in the Dombrock blood group system, i.e. Do(a), Do(b), Gy(a), Hy and Jo(a). Sequence analysis of DNA from one proband with the Do(null) phenotype revealed a single nucleotide mutation of t to c in the donor splice site of DO (IVS1 + 2t > c), with outsplicing of exon 2. Analysis of a second proband revealed a homozygous nonsense mutation 442 C > T in exon 2 predicting a premature stop codon (Gln148 Stop). The molecular bases described in these two probands provide an explanation for the lack of Do glycoprotein on their RBCs.

Base Sequence↗

PubMed2002

Insights into the Holley- and Joseph- phenotypes.

BACKGROUND: The Dombrock blood group system consists of two antithetical antigens (Do(a) and Do(b)) and three high-incidence antigens (Gregory [Gy(a)], Holley [Hy], and Joseph [Jo(a)]). Hy and Jo(a) have an unusual phenotypic relationship. All Hy- RBCs are Jo(a-), but not all Jo(a-) RBCs are Hy-. The molecular background associated with Hy- and Jo(a-) phenotypes is reported. STUDY DESIGN AND METHODS: DNA from 18 probands with Gy(a+(w)) Hy- Jo(a-) RBCs (Hy- phenotype) and from 13 probands with Gy(a+) Hy+(w) Jo(a-) RBCs (Jo[a-] phenotype) was tested. RESULTS: Sequencing and PCR-RFLP revealed 323 G>T (Gly 108Val) and 378 T>C (silent mutation) changes on a DOB background (HY) associated with the Hy- samples. The sister of the original Hy- proband and the majority of samples had an additional mutation of 898 C>G (Leu300Val) (HY1); others had 898C (300Leu) (HY2). In the Jo(a-) phenotype, there is a 350 C>T (Thr1 17Ile) and a 378 C>T (silent mutation) change on a DOA background (JO). CONCLUSION: The results provide an explanation for the variation in typing results in antibody producers. The ablation of Jo(a) in the Hy- phenotype and the weakening of Hy in the Jo(a-) phenotype may be due to the close proximity of these antigens. The 898 C>G mutation, within the sequence motif for glycosylphosphatidylinositol linkage, may cause reduced efficiency of anchoring the protein to the RBC membrane, thereby weakening the expression of Gy(a) and Do(b).

Amino Acid Sequence↗