Rhmod phenotype: a parentage problem solved by denaturing gradient gel electrophoresis of genomic DNA

Steers, F.J.; Wallace, M.; Mora, M.; Carritt, B.; Tippett, P.; Daniels, G.L.

doi:10.21307/immunohematology-2019-770

Abstract

Initial Rh phenotyping of a man with hemolytic anemia, his wife, and son appeared to exclude paternity. No exclusion was found in other blood groups or in the human leukocyte antigen (HLA) system; excluding Rh, the paternity index was 98.58 percent. Samples from these three family members, and two other family members, were tested with additional Rh antisera. The results indicated that the propositus has an Rh_mod phenotype with expression of c, weak e, and very weak D, E, and G antigens. To support this hypothesis, DNA analysis of the RHD and RHCE genes was performed on the five family members. Polymerase chain reaction (PCR) products from exons 2 and 5 were analyzed by denaturing gradient gel electrophoresis (DGGE). The DNA results corroborated the serologic findings and refuted the exclusion of paternity.

References

Colin Y, Cherif-Zahar B, Le Van Kim C, Raynal V, Van Huffel V, Cartron J-P. Genetic basis of the RhD-positive and RhD-negative blood group polymorphism as determined by Southern analysis. Blood 1991;78:2747–52.10.1182/blood.V78.10.2747.2747
Search in Google Scholar Back to article
Mouro I, Colin Y, Cherif-Zahar B, Cartron J-P, Le Van Kim C. Molecular basis of the human Rhesus blood group system. Nature Genet 1993;5:62–5.10.1038/ng0993-62
Search in Google Scholar Back to article
Fodde R, Losekoot M. Mutation detection by denaturing gradient gel electrophoresis (DGGE). Hum Mutation 1994;3:83–94.10.1002/humu.1380030202
Search in Google Scholar Back to article
Steers FJ, Wallace M, Johnson P, Carritt B, Daniels GL. Denaturing gradient gel electrophoresis: a novel method for determining Rh phenotype from genomic DNA. Br J Haematol 1996; 94:417–21.10.1046/j.1365-2141.1996.d01-1808.x
Search in Google Scholar Back to article
Daniels G. Human blood groups. Oxford: Blackwell Science, 1995.
Search in Google Scholar Back to article
Seidl S, Spielman W, Martin H. Two siblings with Rh_null disease. Vox Sang 1972;23:182–9.
Search in Google Scholar Back to article
Cherif-Zahar B, Raynal V, Gane P, et al. Candidate gene acting as a suppressor of the RH locus in most cases of Rh-deficiency. Nature Genet 1996;12:168–73.10.1038/ng0296-168
Search in Google Scholar Back to article
Cherif-Zahar B, Raynal V, Le Van Kim C, et al. Structure and expression of the RH locus in the Rh-deficiency syndrome. Blood 1993;82:656–62.10.1182/blood.V82.2.656.656
Search in Google Scholar Back to article
Tippett P. Regulator genes affecting red cell antigens. Transfus Med Rev 1990;4:56–68.10.1016/S0887-7963(90)70248-9
Search in Google Scholar Back to article
Carritt B, Blunt T, Avent N, Daniels GL, Steers FJ. Rh null phenotypes are not due to a gross deletion and can occur on different genetic backgrounds. Ann Hum Genet 1993;57:273–9.10.1111/j.1469-1809.1993.tb00900.x7910003
Search in Google Scholar Back to article
Chown B, Lewis M, Kaita H, Lowen B. An unlinked modifier of Rh blood groups: effects when heterozygous and when homozygous. Am J Hum Genet 1972;24:623–37.
Search in Google Scholar Back to article
Mallory DM, Rosenfield RE, Wong KY, et al. Rh_mod, a second kindred. Vox Sang 1976;30:430–40.10.1111/j.1423-0410.1976.tb02848.x818811
Search in Google Scholar Back to article
Stevenson MM, Andido V, Tanner MJA, et al. Rh_“null” is not always null. Br Med J 1973;1:417.10.1136/bmj.1.5850.417-a15882634632359
Search in Google Scholar Back to article
Nash R, Shojania AM. Hematological aspect of Rh deficiency syndrome: a case report and a review of the literature. Am J Hematol 1987;24:267–75.10.1002/ajh.2830240306
Search in Google Scholar Back to article
John SWM, Weitzner G, Rozen R, Scriver CR. A rapid procedure for extracting DNA from leukocytes. Nucleic Acid Res 1990;19:408.10.1093/nar/19.2.408
Search in Google Scholar Back to article
Myers RM, Maniatis T, Lerman L. Detection of single base changes by denaturing gradient gel electrophoresis. Methods in Enzymology 1987;155:501–27.10.1016/0076-6879(87)55033-9
Search in Google Scholar Back to article
Reisner D, Henco K, Steger G. Temperature gradient electrophoresis. A method for the analysis of conformational transitions and mutations in nucleic acids and proteins. Adv Electrophoresis 1991;4:169–78.
Search in Google Scholar Back to article
Lerman L, Silverstein K. Computational simulation of DNA melting and its application to DGGE. Methods in Enzymology 1987;155:482–501.10.1016/0076-6879(87)55032-7
Search in Google Scholar Back to article
Tippett P. Depressed Rh phenotypes. Rev Franc Transfusion Immunohématol 1978;1:135–50.10.1016/S0338-4535(78)80037-3
Search in Google Scholar Back to article
Bennett PR, Le Van Kim C, Colin Y, et al. Prenatal determination of fetal RhD type by DNA amplification. New Engl J Med 1993;329:607–10.10.1056/NEJM199308263290903
Search in Google Scholar Back to article
Wolter LC, Hyland CA, Saul A. Rhesus D genotyping using polymerase chain reaction. Blood 1993;82:1682–3.10.1182/blood.V82.5.1682.1682
Search in Google Scholar Back to article
Simsek S, Faas BHW, Bleeker MAM, et al. Rapid Rh D genotyping by polymerase chain reaction-based amplification of DNA. Blood 1995;85:2975–80.10.1182/blood.V85.10.2975.bloodjournal85102975
Search in Google Scholar Back to article
Lo Y-MD, Bowell PJ, Selinger M, et al. Prenatal determination of fetal RhD status by analysis of peripheral blood of rhesus negative mothers. Lancet 1993;341:1147–8.10.1016/0140-6736(93)93161-S
Search in Google Scholar Back to article
Le Van Kim C, Mouro I, Brossard Y, Chavinié J, Cartron JP, Colin Y. PCR-based determination of Rhc and RhE status of fetuses at risk of Rhc and RhE haemolytic disease. Br J Haematol 1994;88:193–5.10.1111/j.1365-2141.1994.tb04996.x7803243
Search in Google Scholar Back to article
Faas BHW, Simsek S, Bleeker PMM, et al. Rh E/e genotyping by allele-specific primer amplification. Blood 1995;85:829–32.10.1182/blood.V85.3.829.bloodjournal853829
Search in Google Scholar Back to article
Huang C-H, Reid ME, Chen Y, Coghlan G, Okubo Y. Molecular definition of red cell Rh haplotypes by tightly linked Sphl RFLPs. Am J Hum Genet 1996;58:133–42.
Search in Google Scholar Back to article
Poulter M, Kemp TJ, Carritt B. DNA-based Rhesus typing: simultaneous determination of RHC and RHD status using the polymerase chain reaction. Vox Sang 1996;70:164–8.10.1111/j.1423-0410.1996.tb01316.x8740009
Search in Google Scholar Back to article
Avent ND, Martin PG, Carritt B. Improved Rh D genotyping assay for prenatal determination of fetal Rh D status: the exon 10/intron 4 multiplex assay (abstract). Transfus Med 1995;5(Suppl 1):20.
Search in Google Scholar Back to article

Rhmod phenotype: a parentage problem solved by denaturing gradient gel electrophoresis of genomic DNA

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