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Gene Functions References

1. 4 novel RHD alleles, each characterized by a single nucleotide substitution were identified. RHD*67T, RHD*173T, and RHD*579C give rise to a weak D phenotypical expression. Their corresponding amino acid changes are predicted to be located in the membrane-spanning or intracellular domains of the RhD protein. RHD*482G is the 4th substitution. PMID: 29052223
2. Extensive studies show that the RHD*1227A is the most prevalent DEL allele in East Asian populations and may have confounded the initial molecular studies. PMID: 29214630
3. The most prevalent DEL allele was RHD*DEL1 (c.1227G>A), which is proven to be immunogenic. A high frequency of RHD*Psi was detected in the donors with nondeleted RHD alleles (31%), far superior to the frequency of RHD variant alleles (15.5%). PMID: 29193119
4. Absence of the whole RHD gene is common among RhD negative blood donors from Qingdao region, and there are rich genetic polymorphisms for this locus PMID: 29188626
5. The RHD 1227G>A mutation contributes to the molecular basis of Del phenotype in the Taiwanese population. The point mutation results in aberrant frame shift or exon deletion transcripts and generates D protein with weak antigen presenting function. PMID: 26774048
6. In this mixed Brazilian population, the most frequent weak D types were 1, 4, 3 and 2 (frequencies of 4.35%, 2.32%, 1.46% and 0.29%, respectively; total of 8.41%) and partial D was found in 2.90% of samples carrying the RHD gene. For samples with inconclusive RhD typing, 53.33% of them presented weak and partial RHD, and 43.75% had concomitantly more than one RHD variant PMID: 27184292
7. sequence comparisons revealed high sequence similarity between Patr_RHbeta and Hosa_RHCE, while the chimpanzee Rh gene closest to Hosa_RHD was not Patr_RHa but rather Patr_RHy PMID: 26872772
8. Six weak D types in the Russian Federation: the most common type 3 (49.2%) and type 1 (28.6%), type 2 (14.3), type 15 (4.8%), type 4.2 (DAR) (1.6%) and type 6 (1.6%). PMID: 27459619
9. The frequency of RhD negative homozygosity in the Cypriot population was estimated to be 7.2%, while the frequencies of RHD hemizygosity and RhD positive homozygosity was calculated to be 39.2 and 53.6%, respectively. PMID: 27036548
10. Occurrence of partial RhD alleles in the Tunisian population. PMID: 26482434
11. Reduced expression of D antigen is caused not only by missense mutation of the RHD gene, but also by silent mutation that may affect splicing. PMID: 26340140
12. Loss of heterozygosity of RhD gene on chromosome 1p in acute myeloid leukemia. PMID: 25495174
13. The data indicate that partial DEL women appear at risk of alloimmunization to the D antigen. PMID: 26033335
14. Weak D type 4.0 appears to be the most prevalent weak D in our population. However, all samples must be sequenced in order to determine the exact subtype of weak D type 4, since weak D type 4.2 has considerable clinical importance PMID: 25369614
15. Paternal RHD zygosity determination in Tunisians: evaluation of three molecular tests. PMID: 24960665
16. Serologic findings of RhD alleles in Egyptians and their clinical implications. PMID: 25219636
17. Despite the enormous diversity of RHD alleles, first-line weak D genotyping was remarkably informative, allowing for rapid classification of most samples with conspicuous RhD phenotype in Flanders, Belgium. PMID: 25413499
18. Splicing is altered in RHD*weak D Type 2 allele, a rare variant most commonly found in Caucasians; RHD including the full-length Exon 9 is transcribed in the presence of the c.1227G>A substitution frequently carried by Asians with DEL phenotype. PMID: 25808592
19. Among all donors 89.00% and 10.86% were D-positive and D-negative, respectively, while 0.14% (n=55) of the donors were found to be weak D-positive. PMID: 24960662
20. The frequency of D variants detected by IAT allele RHD(M295I) was 1:272 in D negative donors. Obviously, DEL phenotype is more common in some parts of European population than initially thought. PMID: 24556127
21. New RHD variant alleles. PMID: 25179760
22. Currently, it seems to be difficult to observe any new RHD alleles in the Han Chinese population. D prediction in this population is easier because popular alleles are dominant, accounting for about 99.80% of alleles in D-negative people. PMID: 24333088
23. In Han Chinese people with weak D serotyping, 8 weak D and 4 partial D alleles were found. 3 new weak D alleles (RHD weak D 95A, 779G, and 670G) and one new partial D allele (RHD130-132 del TCT) were identified. PMID: 25070883
24. DEL/weak D-associated RHD alleles were found in 2.17% of Australian D-, C+ and/or E+ blood donors. PMID: 24894016
25. RHD alleles and D antigen density among serologically D- C+ Brazilian blood donors. PMID: 24267268
26. In this study, D antigen density on the erythrocyte surface of DEL individuals carrying the RHD1227A allele was extremely low, there being only very few antigenic molecules per cell, but the D antigen epitopes were grossly complete. PMID: 24333082
27. The prevalence of D-/RHD+ samples is higher than that observed in Europeans. More than 50% of the RHD alleles found were represented by RHDpsi and RHD-CE-D(s) showing the African contribution to the genetic pool of the admixed population analyzed. PMID: 24819281
28. A method of genotyping has been developed in the laboratory. genotyping results of 200 pregnant women have been compared with RH1 phenotype at birth. PMID: 24559796
29. We conclude that noninvasive fetal RHD genotyping from maternal blood provides accurate results and suggests its viability as a clinical tool for the management of RhD-negative pregnant women in an admixed population. PMID: 24615044
30. Two molecular polymorphisms to detect the (C)ce(s) type 1 haplotype. PMID: 24333080
31. This study analyzes the phenotype and frequency of RhD and tetanus toxoid specific memory B cells in limiting dilution culture. PMID: 24965774
32. Data indicate that non-invasive prenatal testing of cell-free fetal DNA (cffDNA) in maternal plasma can predict the fetal RhD type in D negative pregnant women. PMID: 24204719
33. DIV alleles arose from at least two independent evolutionary events. DIV Type 1.0 with DIVa phenotype belongs to the oldest extant human RHD alleles. DIV Type 2 to Type 5 with DIVb phenotype arose from more recent gene conversions. PMID: 23461862
34. RHD*DARA and RHD*DAR2 are the same allele. Furthermore, the alleles RHD*DAR1.2 and RHD*DAR1.3 both exist; however, the silent mutation 957G>A (V319) showed no influence on the RhD phenotype. PMID: 23902153
35. All novel weak D types expressed all tested D epitopes. PMID: 23550956
36. Only 0.2% of D- Polish donors carry some fragments of the RHD gene; all of them were C or E+. Almost 60% of the detected RHD alleles may be potentially immunogenic when transfused to a D- recipient. PMID: 23634715
37. 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. PMID: 23216299
38. RHD variants were identified in 91.6% of the 430 studied samples. Two of the nine previously undescribed variants, c.335G>T and c.939G>A, were found to cause aberrant mRNA splicing by means of a splicing minigene assay. PMID: 23228153
39. Hemizygous RHD subjects demonstrated significantly higher platelet increases and peak platelet counts than homozygous RHD subjects. PMID: 23712954
40. The RHD*weak 4.3 allele with markedly reduced antigen D expression was shown to be associated with an altered RHCE gene formation leading to the expression of C(X) and VS. PMID: 22288371
41. modulates the influence not only of latent toxoplasmosis, but also of at least two other potentially detrimental factors, age and smoking, on human behavior and physiology. PMID: 23209579
42. RHD*DIVa and RHCE*ceTI almost always, but not invariably, travel together. This haplotype is found in people of African ancestry and the red blood cells can demonstrate aberrant reactivity with anti-C. PMID: 22804620
43. RHD*DOL2, like RHD*DOL1, encodes a partial D antigen and the low-prevalence antigen DAK. PMID: 22738288
44. The use of cell-free fetal DNA in prenatal noninvasive early detection of fetal RhD status and gender by real-time PCR is highly sensitive and accurate as early as the 11th week of gestation for RhD status and the 7th week of gestation for fetal sex. PMID: 21488716
45. This deletion appears to represent not only the first large deletion associated with weak D but also the weakest of weak D alleles so far reported. PMID: 22420867
46. Characterization of novel RHD alleles. PMID: 22320258
47. The RHD genotyping proved to be a necessary tool to characterise RHD alleles in donors phenotyped as D- or weak D to increase the transfusion safety in highly racial mixed population. PMID: 22211984
48. RHD homozygotes had nearly twice as many D antigen sites as hemizygotes. Expression of c or E antigens was associated with increased RBC D antigen expression, but presence of C or e antigens reduced expression. PMID: 22121029
49. Anti-D investigations in individuals expressing weak D Type 1 or weak D Type 2 PMID: 21658048
50. Distribution of weak D types in the Croatian population. PMID: 21269342