Weak D caused by a founder deletion in the RHD gene

Transfusion

Volumn 52, Issue 11, 2012, Pages 2348-2355

  Fichou, Yann ^a   Chen, Jian Min ^a   Le Maréchal, Cédric ^a   Jamet, Déborah ^a   Dupont, Isabelle ^a   Chuteau, Claude ^a   Durousseau, Cécile ^a   Loirat, Marie Jeanne ^a   Bailly, Pascal ^a   Férec, Claude ^a  

^a INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ANKYRIN; COMPLEMENTARY DNA; MICROSATELLITE DNA; RHESUS D ANTIBODY;

AMINO ACID SUBSTITUTION; ARTICLE; BLOOD GROUP; ERYTHROCYTE MEMBRANE; EXON; FLOW CYTOMETRY; GENE AMPLIFICATION; GENE DELETION; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HETEROZYGOTE; IMMUNOGENICITY; PROTEIN INTERACTION;

ERYTHROCYTE MEMBRANE; EXONS; FLOW CYTOMETRY; FOUNDER EFFECT; GENE DELETION; GENETIC ASSOCIATION STUDIES; HAPLOTYPES; HUMANS; IMMUNOPHENOTYPING; MICROSATELLITE REPEATS; MUTATION, MISSENSE; NUCLEIC ACID AMPLIFICATION TECHNIQUES; POLYMERASE CHAIN REACTION; RH-HR BLOOD-GROUP SYSTEM; RNA STABILITY;

EID: 84869221752     PISSN: 00411132     EISSN: 15372995     Source Type: Journal    
DOI: 10.1111/j.1537-2995.2012.03606.x     Document Type: Article

References (19)

1. Flegel WA,. Molecular genetics and clinical applications for RH. Transfus Apher Sci 2011; 44: 81-91.
2. Le Maréchal C, Guerry C, Benech C, Burlot L, Cavelier B, Porra V, Delamaire M, Férec C, Chen JM,. Identification of 12 novel RHD alleles in western France by denaturing high-performance liquid chromatography analysis. Transfusion 2007; 47: 858-63.
3. Fichou Y, Le Maréchal C, Bryckaert L, Guerry C, Benech C, Dupont I, Jamet D, Férec C, Chen JM,. Variant screening of the RHD gene in a large cohort of subjects with D phenotype ambiguity: report of 17 novel rare alleles. Transfusion 2011 Sep 26. [Epub ahead of print].
4. Martins WS, Lucas DC, Neves KF, Bertioli DJ,. WebSat-a web software for microsatellite marker development. Bioinformation 2009; 3: 282-3.
5. Shimizu M, Kosaka N, Shimada T, Nagahata T, Iwasaki H, Nagai H, Shiba T, Emi M,. Universal fluorescent labeling (UFL) method for automated microsatellite analysis. DNA Res 2002; 9: 173-8.
6. Guo DC, Milewicz DM,. Methodology for using a universal primer to label amplified DNA segments for molecular analysis. Biotechnol Lett 2003; 25: 2079-83.
7. Flegel WA, Curin-Serbec V, Delamaire M, Donvito B, Ikeda H, Jorgensen J, Kumpel B, Le Pennec PY, Pisacka M, Tani Y, Uchikawa M, Wendel S, Wagner FF,. Section 1B: Rh flow cytometry. Coordinator's report. Rhesus index and antigen density: an analysis of the reproducibility of flow cytometric determination. Transfus Clin Biol 2002; 9: 33-42.
8. Kulkarni S, Mohanty D, Gupte S, Vasantha K, Joshi S,. Flow cytometric quantification of antigen D sites on red blood cells of partial D and weak D variants in India. Transfus Med 2006; 16: 285-9.
9. Chen JM, Cooper DN, Férec C, Kehrer-Sawatzki H, Patrinos GP,. Genomic rearrangements in inherited disease and cancer. Semin Cancer Biol 2010; 20: 222-33.
10. Cooper DN, Bacolla A, Férec C, Vasquez KM, Kehrer-Sawatzki H, Chen JM,. On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease. Hum Mutat 2011; 32: 1075-99.
11. Bacolla A, Jaworski A, Larson JE, Jakupciak JP, Chuzhanova N, Abeysinghe SS, O'Connell CD, Cooper DN, Wells RD,. Breakpoints of gross deletions coincide with non-B DNA conformations. Proc Natl Acad Sci U S A 2004; 101: 14162-7.
12. Kormoczi GF, Gassner C, Shao CP, Uchikawa M, Legler TJ,. A comprehensive analysis of DEL types: partial DEL individuals are prone to anti-D alloimmunization. Transfusion 2005; 45: 1561-7.
13. Gassner C, Doescher A, Drnovsek TD, Rozman P, Eicher NI, Legler TJ, Lukin S, Garritsen H, Kleinrath T, Egger B, Ehling R, Kormoczi GF, Kilga-Nogler S, Schoenitzer D, Petershofen EK,. Presence of RHD in serologically D-, C/E+ individuals: a European multicenter study. Transfusion 2005; 45: 527-38.
14. Chen JM, Férec C, Cooper DN,. A systematic analysis of disease-associated variants in the 3' regulatory regions of human protein-coding genes I: general principles and overview. Hum Genet 2006; 120: 1-21.
15. Bhuvanagiri M, Schlitter AM, Hentze MW, Kulozik AE,. NMD: RNA biology meets human genetic medicine. Biochem J 2010; 430: 365-77.
16. Nicolas V, Le Van Kim C, Gane P, Birkenmeier C, Cartron JP, Colin Y, Mouro-Chanteloup I,. Rh-RhAG/ankyrin-R, a new interaction site between the membrane bilayer and the red cell skeleton, is impaired by Rh(null)-associated mutation. J Biol Chem 2003; 278: 25526-33.
17. Nicolas V, Mouro-Chanteloup I, Lopez C, Gane P, Gimm A, Mohandas N, Cartron JP, Le Van Kim C, Colin Y,. Functional interaction between Rh proteins and the spectrin-based skeleton in erythroid and epithelial cells. Transfus Clin Biol 2006; 13: 23-8.
18. Vege S, Copeland TR, Nickle PA, Westhoff CM,. RHD exon consensus splice-site changes, 344A>G and 1228T>G, associated with weak D expression. Transfusion 2009; 49: SP172.
19. Silvy M, Simon S, Gouvitsos J, Di Cristofaro J, Ferrera V, Chiaroni J, Bailly P,. Weak D and DEL alleles detected by routine SNaPshot genotyping: identification of four novel RHD alleles. Transfusion 2011; 51: 401-11.