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Experimental Study and Two Family Survey on RhD-deletion Phenotype

Author: YuanFen
Tutor: LiBiJuan
School: Central South University
Course: Clinical Science
Keywords: RhD - Blood type PCR-SSP Genotyping Pedigree
CLC: R446.6
Type: Master's thesis
Year: 2008
Downloads: 26
Quote: 0
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Abstract


The RhD-deletion is an extremely rare variant of the Rh blood group system. Serologically complete lack performance RhC / c, E / e antigen on erythrocytes, and (or) D antigen overexpression. The RhD-deficient individuals can easily by transfusion or pregnancy immune to produce high titers of anti-C / c, E / e joint antibody (anti-the Hro antibody), causing severe hemolytic disease of the fetus or newborn. However, the mechanism of RhD-deficient unclear. We found two cases clinical cases of suspected RhD-deficient, and these two individuals and their family members conducted a preliminary study on the serological and molecular structure. Chapter RhD-deficient blood group serological detection pedigree Blood Group RhD-deletion from the angle of the serological defined. Classic blood cell agglutination, two individuals were blood group serology testing, including blood typing antiglobulin test, antibody screening and identification of antibody titers to detect hemolytic disease of newborns detected on two pedigrees The members of the family pedigree blood type survey. The results show that the two bodies on erythrocytes RhC / c, E / e antigen is completely lacking and present in the serum of antibodies against these antigens. Family survey found: 2 individuals, respectively, from the next of kin and non-kin marriage, family, and parent members of the Rh phenotype are homozygous state. Therefore, we believe: 2 individuals are RhD-deficient, RhD-deletion can occur in the pedigrees of the next of kin and non-kin marriage. Chapter 2 Rh blood group genotyping and sequence analysis to a preliminary understanding of the mechanism of molecular the RhD-deficient ontogeny, we use sequence-specific primer polymerase chain reaction (PCR-SSP) method, two cases of RhD-deficient individuals RHD and RHCE gene family members multiple exons and introns were amplified. According to the results of the PCR-SSP, found inconsistent with Rh phenotype exception amplified fragments were sequenced. The results showed that: two RhD-deficient individuals Rh blood group gene amplification by PCR-SSP can get D, e fragment. Unusual e fragment sequencing: the RhD-individual 1 exon in 251,886 nucleotides missing, 251,922 and 251,954 point mutation. RhD-individual presence of the mutation in exon 5 251,953. From this we can infer that the the: Rh gene in the absence of exon and single nucleotide deletion mutation may be one of the important reasons leading to the formation of Rh D-deficient.

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