Molecular Genetic Analysis of Variant Phenotypes of the A B 0 Blood Group System
نویسندگان
چکیده
A 6 0 is clinically the most important blood group system in transfusion medicine and includes many variant phenotypes. To understand the molecular genetic basis of this polymorphic system, we have analyzed genomic DNAs obtained from Japanese individuals possessing variant AB0 phenotypes including A,, Ax, A,,, cis-AB, B., and B-,. By polymerase chain reaction-single-strand conformation polymorphism (SSCP) and nucleotide sequence analyses, we identified 11 different alleles. These alleles had nucleotide sequences different from those of the previously described 13 different alleles responsible for the common AB0 phenotypes. Analysis of the nucleotide sequences of the alleles responsible for those variant phenotypes showed that the amino acid residues at positions 266 and 268 may be crucial
منابع مشابه
Molecular genetic analysis of variant phenotypes of the ABO blood group system.
ABO is clinically the most important blood group system in transfusion medicine and includes many variant phenotypes. To understand the molecular genetic basis of this polymorphic system, we have analyzed genomic DNAs obtained from Japanese individuals possessing variant ABO phenotypes including A2, Ax, Ael, cis-AB, Bx, and Bel. By polymerase chain reaction-single-strand conformation polymorphi...
متن کاملWhole Exome Sequencing Revealed a Novel GJB1 Pathogenic Variant and a Rare BSCL2 Mutation in Two Iranian Large Pedigrees with Multiple Affected Cases of Charcot-Marie-Tooth
Charcot-Marie-Tooth disease (CMT) is the most common hereditary neuropathy of the peripheral nervous system with a wide range of severity and age of onset. CMT patients share similar phenotypes which make it often impossible to identify the disease types based on clinical presentation and electrophysiological studies alone. In recent years, novel genetic diagnostic approaches such as whole exom...
متن کاملA pathogenic variant in the transforming growth factor beta I (TGFBI) in four Iranian extended families segregating granular corneal dystrophy type II: A literature review
Objective(s): Granular and lattice corneal dystrophies (GCDs & LCDs) are autosomal dominant inherited disorders of the cornea. Due to genetic heterogeneity and large genes, unraveling the mutation is challenging.Materials and Methods: Patients underwent comprehensive clinical examination, and targeted next-generation sequencing (NGS) was...
متن کاملEvaluation of genetic relationship between 15 bamboo species of North-East India based on ISSR marker analysis
The classification of bamboos based on floral morphology and reproductive characters is very hard due to erratic flowering behavior and unusually long reproductive cycle. The application of reliable and effective DNA molecular markers is highly essential to address this problem. In the present investigation, inter-simple sequence repeats (ISSR) markers were employed to study phylogenetic relati...
متن کاملAssessment of Association between Duffy Blood Group Phenotypes and Susceptibility to Systemic Lupus Erythematosus and its Severity
Background: Considering the role of Duffy antigenic system expression on RBCs as chemokines for inflammatory cytokines, expression of Duffy antigens as different phenotypes was studied in a group of patients with SLE. The association between different phenotypes of Duffy antigens and occurrence of SLE and its severity was assessed. Methods: This cross-sectional study was carried out on 100 pa...
متن کامل