Swati S Kulkarni1, Harita Gogri1, Disha Parchure1, Garima Mishra1, Kanjaksha Ghosh1, Sunil Rajadhyaksha2, Manisha Madkaikar1, Claude Férec3,4,5,6, Yann Fichou3,4. 1. National Institute of Immunohematology, Indian Council of Medical Research (NIIH-ICMR), Mumbai, India. 2. Department of Transfusion Medicine, Tata Memorial Hospital, Mumbai, India. 3. Institut National de la Santé et de la Recherche Médicale (Inserm), UMR1078, Brest, France. 4. Etablissement français du sang Bretagne, Brest, France. 5. Laboratoire de Génétique Moléculaire et d'Histocompatibilité, Centre Hospitalier Régional Universitaire (CHRU), Hôpital Morvan, Brest, France. 6. Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale (UBO), Brest, France.
Abstract
BACKGROUND: Molecular bases of blood group systems, including Rh blood group, have been poorly studied in the Indian population so far, while specificities of Europeans, East Asians and Africans have been well known for years. In order to gain insights into the molecular bases of this population, we sought to characterize the RHD allele in D- Indian donors expressing C and/or E antigen(s). METHODS: RHD gene was analyzed in 171 serologically D-, C/E+ samples by standard molecular methods such as quantitative, multiplex PCR of short fluorescent fragments (QMPSF) and direct sequencing when necessary. RESULTS: RHD whole gene deletion at the homozygous state was found to be the most common genotype associated with D- phenotype (118/171, 69.0%). Nonfunctional, negative hybrid genes with reported molecular backgrounds were observed in approximately one-third of the samples, while only four samples carry single-nucleotide variations, including one novel nonsense (RHD(Y243X)), one novel frameshift (RHD(c.701delG)), and two missense (RHD(T148R) and RHD(T148R, T195M)) alleles. CONCLUSION: Overall we report for the first time the molecular bases of D antigen negativity in the D-, C/E+ Indian population, which appears to be qualitatively similar to other populations, but with a population-specific, quantitative distribution of D-- alleles.
BACKGROUND: Molecular bases of blood group systems, including Rh blood group, have been poorly studied in the Indian population so far, while specificities of Europeans, East Asians and Africans have been well known for years. In order to gain insights into the molecular bases of this population, we sought to characterize the RHD allele in D- Indian donors expressing C and/or E antigen(s). METHODS: RHD gene was analyzed in 171 serologically D-, C/E+ samples by standard molecular methods such as quantitative, multiplex PCR of short fluorescent fragments (QMPSF) and direct sequencing when necessary. RESULTS: RHD whole gene deletion at the homozygous state was found to be the most common genotype associated with D- phenotype (118/171, 69.0%). Nonfunctional, negative hybrid genes with reported molecular backgrounds were observed in approximately one-third of the samples, while only four samples carry single-nucleotide variations, including one novel nonsense (RHD(Y243X)), one novel frameshift (RHD(c.701delG)), and two missense (RHD(T148R) and RHD(T148R, T195M)) alleles. CONCLUSION: Overall we report for the first time the molecular bases of D antigen negativity in the D-, C/E+ Indian population, which appears to be qualitatively similar to other populations, but with a population-specific, quantitative distribution of D-- alleles.
Authors: H Moussa; M Tsochandaridis; N Kacem; T Chakroun; S Abdelkefi; J Gabert; A Levy; S Jemni Yacoub Journal: Transfus Clin Biol Date: 2014-11-06 Impact factor: 1.406
Authors: Willy A Flegel; Gregory A Denomme; John T Queenan; Susan T Johnson; Margaret A Keller; Connie M Westhoff; Louis M Katz; Meghan Delaney; Ralph R Vassallo; Clayton D Simon; S Gerald Sandler Journal: Transfusion Date: 2020-03-12 Impact factor: 3.337