An <i>AQP1</i> null allele in an Indian woman with Co(a–b–) phenotype and high‐titer anti‐Co3 associated with mild HDN

Joshi, Sanmukh R; Wagner, Franz F.; Vasantha, K; Panjwani, Sangeeta; Flegel, Willy A.

doi:10.1046/j.1537-2995.2001.41101273.x

Cited by 23 publications

(16 citation statements)

References 33 publications

(37 reference statements)

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“…22 Because the probands of the known kindreds with Sc:-1,-2 phenotype appear to be healthy, 5 its function may likely be compensated by other proteins. Even the lack of functional important proteins as the water transporter in Co(a-b-) individuals 32 may become symptomatic only in very special circumstances. 33 It may be worthwhile to check if the polymorphisms observed in ERMAP influence its binding characteristics and function.…”

Section: Discussionmentioning

confidence: 99%

Scianna antigens including Rd are expressed by ERMAP

Wagner

Poole

Flegel

2003

Blood

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The Scianna blood group encompasses the high-frequency antigens Sc1 and Sc3 and the low-frequency antigen Sc2. Another lowfrequency antigen Rd (Radin) was suggested to belong to the Scianna blood group. The molecular basis of the Scianna blood group was unknown. The erythrocyte membrane-associated protein (ERMAP) shared the genomic location, protein product size, and localization to the red blood cell (RBC) membrane surface with Scianna. The ERMAP gene was sequenced in probands with known Scianna and Radin phenotypes. In a Sc:-1,-2 proband, only an ERMAP allele with a 2-bp deletion in exon 3 causing a frameshift could be detected. A Sc:-1,2 proband was homozygous for the ERMAP(Gly57Arg) allele. An Rd ؉ proband was heterozygous for the ERMAP(Pro60Ala) allele. Polymerase chain reaction with sequence-specific priming (PCR-SSP) systems was developed to detect the Sc2 and Rd alleles of the ERMAP gene. The 2 alleles occurred with about 1% and less than 1% frequency in the population, which was compatible with the frequency of the Sc2 and Rd antigens known in whites. Two Sc2 ؉ and one Rd ؉ samples that were found by genotyping were confirmed by serology.

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Section: Discussionmentioning

confidence: 99%

Scianna antigens including Rd are expressed by ERMAP

Wagner

Poole

Flegel

2003

Blood

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“…The following alleles were explored according to previously published genotyping procedures: KEL*1 specific thymidine and KEL*2 specific cytosine at nucleotide 698 for the KEL gene (Hessner et al, 1996); JK*1 specific guanidine and JK*2 specific adenine at nucleotide 838 for the SCLA14A1 gene (Irshaid et al, 1998); MNS*1 specific guanidine and thymidine and MNS*2 specific adenine and guanidine at positions 71 and 72, respectively, of the GYPA gene; MNS*3 specific thymidine and MNS*4 specific cytosine at position 143 of the GYPB gene for the MNS system (Eshleman et al, 1995;Huang et al, 1991); DO*1 specific adenine and DO*2 specific guanidine at nucleotide 793 for the ART4 gene (Wu et al, 2001); CO*1 specific cytosine and the CO*2 specific thymidine at nucleotide 134 for the AQP1 gene (Joshi et al, 2001); YT*A specific cytosine and YT*B specific adenine at nucleotide 1057 for the ACHE gene (Yan et al, 2005) (Table 1).…”

Section: Pcr Genotypingmentioning

confidence: 99%

DNA‐based typing of Kell, Kidd, MNS, Dombrock, Colton, and Yt blood group systems in the French Basques

Touinssi

Chiaroni

Degioanni³

et al. 2008

American J Hum Biol

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The Basques demonstrate peculiar characteristics regarding blood group systems. Although ABO, Rhesus, and Duffy have been extensively studied in this population, the distribution of other groups remains largely unknown. Therefore, we evaluated the frequency of less-explored- or still noninvestigated blood groups using DNA-based assays and interpreted these data in the view of population genetics. Polymorphisms of KEL (Kell), SLCA14A1 (Kidd), GYPA/GYPB (MNS), ART4 (Dombrock), AQP1 (Colton), and ACHE (Yt) blood group genes were determined from a sample of more than 100 autochthonous French Basques using allele-specific primer PCR (PCR-ASP) methods. Our results were compared with those previously obtained by the use of serology from both Basque and non-Basque European populations. MNS*1 and JK*1 allele frequencies were comparable with those reported from Basque samples. Conversely, the KEL*1 allele frequency differed significantly. To our knowledge, this is the first time that the other three systems are studied in the Basque population. DO*1 and CO*1 allele frequencies, being respectively 0.35 and 0.96, were significantly inferior to those published from various European populations. There were some discrepancies regarding these six blood systems when comparing molecular typing with serology. These findings may be explained by differences in either criteria for individual selection or technical assays. Nevertheless, these results constitute additional data to be included in the chapter of Basque biological anthropology.

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“…This phenotype was detected in an Indian woman, a primipara, second gravida who delivered a baby girl who developed a mild HDN. [9] Compatibility test revealed a high titer alloantibody, reacting with some high-frequency antigen, was identified as anti-Co3. Her red cells were typed as Co(a-b-).…”

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A profile of rare bloods in India and its impact in blood transfusion service

Joshi¹,

Vasantha²

2012

Asian J Transfus Sci

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From transfusion point of view, a rare blood is the one which lacks a high-frequency antigen as well as the one who lacks multiple common antigens and such blood donations help in transfusion to those recipients having alloantibodies to corresponding antigens. In India, we have about four such kinds of phenotypes potential enough to pose problems in providing blood to the recipients having these phenotypes. Besides, there are other four kinds of rare bloods that pose seldom problems in blood supply, though some of these may cause problems in interpretation of results on assigning proper blood groups for a person.

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An AQP1 null allele in an Indian woman with Co(a–b–) phenotype and high‐titer anti‐Co3 associated with mild HDN

Abstract: The kindred presented a fifth example of an AQP1 null allele, which was caused by a single nucleotide deletion leading to a shift in the reading frame beyond codon 78. A method of genotyping CO for Co(a) and Co(b) antigen phenotype prediction was presented.

Cited by 23 publications

References 33 publications

Scianna antigens including Rd are expressed by ERMAP

Scianna antigens including Rd are expressed by ERMAP

DNA‐based typing of Kell, Kidd, MNS, Dombrock, Colton, and Yt blood group systems in the French Basques

A profile of rare bloods in India and its impact in blood transfusion service

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