Molecular bases of unexpressed <i>RHD</i> alleles in Chinese D− persons

Ye, Luyi; Yue, D.; Wo, Dele; Ding, Xiyu; Guo, Shuangmei; Li, Qin; Guo, Zhonghui; Zhu, Ziyan

doi:10.1111/j.1537-2995.2009.02181.x

Cited by 22 publications

(21 citation statements)

References 16 publications

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“…One sample was homozygous at RHD locus. Considering the fact that no double peak was identified in DNA sequencing chromatograms at the mutation site, the homozygous RHD genotype might be caused by the novel allele RHD IVS4+5G>T in trans with a RHD(1)‐CE(2‐9)‐D(10) allele, which is the most frequent hybrid RHD allele found in Chinese persons . The RH haplotypes associated with these new alleles are shown in Table .…”

Section: Resultsmentioning

confidence: 99%

Weak D phenotypes caused by intronic mutations in the RHD gene: four novel weak D alleles identified in the Chinese population

Gao

et al. 2012

Transfusion

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This study is the first to describe weak D types caused by intronic variations near the splice sites in the RHD gene, which is supported by the genotyping results combined with serologic profiles and bioinformatics analysis. The identification of the four novel RHD alleles represents a new significant addition to the molecular bases that underlie weak D, which would deepen our understanding of the mechanism of the low expression of the RhD antigen. These nucleotide changes are predicted to have regulatory effects on RHD splicing.

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Section: Resultsmentioning

confidence: 99%

Weak D phenotypes caused by intronic mutations in the RHD gene: four novel weak D alleles identified in the Chinese population

Gao

et al. 2012

Transfusion

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“…In Europeans, the molecular basis of the D-negative phenotype is usually associated with deletion of the entire RHD , but several other molecular bases have been described [23;24]. One tenth of D-negative Asians have an intact but inactive RHD and as many as 30% of Asians have the D el phenotype [25–30]. About a quarter of D-negative African Americans have an RHD pseudogene ( RHD Ψ) [31] and many others have a hybrid RHD-CE-D gene (e.g., the r’ S phenotype) [32], neither of which encode the D antigen.…”

Section: Applications Of Dna-based Assays In the Reference Laboratorymentioning

confidence: 99%

DNA-based methods in the immunohematology reference laboratory

Reid

Denomme

2011

Transfusion and Apheresis Science

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Although hemagglutination serves the immunohematology reference laboratory well, when used alone, it has limited capability to resolve complex problems. This overview discusses how molecular approaches can be used in the immunohematology reference laboratory. In order to apply molecular approaches to immunohematology, knowledge of genes, DNA-based methods, and the molecular bases of blood groups are required. When applied correctly, DNA-based methods can predict blood groups to resolve ABO/Rh discrepancies, identify variant alleles, and screen donors for antigen-negative units. DNA-based testing in immunohematology is a valuable tool used to resolve blood group incompatibilities and to support patients in their transfusion needs.

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“…The Rh antigens are also the most clinically significant in transfusion medicine [1,2]. They are located on two proteins, RhD and RhCE: the former carries the D antigen, while the latter carries C, c, E, and e antigens.…”

Section: Brief Communication (Original)mentioning

confidence: 99%

RH genotypes among Malaysian blood donors

Musa

Hassan²,

Ayob³

et al. 2014

Asian Biomedicine

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Background: RH genotyping studies have been conducted mainly in people of Caucasian and African descent. There is limited information regarding the molecular basis for RH genotypes in Malaysia. Objectives: To investigate the prevalence and characteristics of RHCE genotypes among different ethnic groups in Malaysia. Methods: A total of 1014 whole blood samples were obtained from donors from 4 different ethnic groups (360 Malays, 434 Chinese, 164 Indians, and 56 others). All samples were phenotyped for C, c, D, E, and e using standard serologic methods and genotyped using polymerase chain reaction (PCR)-based analysis. Results:In the blood samples that we analyzed, the distribution of RH genotype antigens was significantly different among the various ethnic groups. Our findings showed that CCDee is the most common in Malaysian blood donors; 18.4% (187/1014) compared with other genotypes. The ccDEE genotype is more prevalent in the Chinese: 65.6% (82/125), and the ccee genotype is more prevalent in Indians: 47.1% (65/138). There were discrepancies between phenotypes and genotypes. There were 17 (1.7%) discrepancies in RH C/c genotyping results and of these 47% (8/17) occurred in Malays. Discrepancies in RH E/e results occurred in 3 samples (0.3%). Conclusions: Our study provides a database for the distribution of RH genotypes of donors from the major ethnic groups in Malaysia. Methods used in this study are useful for comparing the phenotypes and genotypes. Further investigation should be conducted to study the causes of these discrepancies using other molecular based techniques.

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Molecular bases of unexpressed RHD alleles in Chinese D− persons

Abstract: Informative population-based data for improving molecular diagnostic strategies for Chinese D- persons are suggested by this study. This type of systematic knowledge is important for the development of typing and transfusion strategies for the Chinese population.

Cited by 22 publications

References 16 publications

Weak D phenotypes caused by intronic mutations in the RHD gene: four novel weak D alleles identified in the Chinese population

Weak D phenotypes caused by intronic mutations in the RHD gene: four novel weak D alleles identified in the Chinese population

DNA-based methods in the immunohematology reference laboratory

RH genotypes among Malaysian blood donors

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