1995 Fiscal Year Final Research Report Summary
Decision of blood group genes and apprication of DNA analysis in Forensic Medicine
| Project/Area Number |
06404028
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| Research Category |
Grant-in-Aid for General Scientific Research (A)
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| Allocation Type | Single-year Grants |
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| Research Field |
Legal medicine
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| Research Institution | Reseach Institute of Evolutionary Biology (1995)
Jichi Medical University (1994) |
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Principal Investigator |
IKEMOTO Shigenori Jichi Medical School Professor, 主任研究員 (90048942)
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| Co-Investigator(Kenkyū-buntansha) |
KAJII Eiji Jichi Medical School Assistant Professor, 医学部, 教授 (40204391)
TSUCHIDA Shuichi Jichi Medical School Ph.D.Lecture (20217326)
GOTO Kimihiko Jichi Medical School Lecture (40146155)
IWAMOTO Sadahiko Jichi Medical School Lecture (10232711)
FUKUI Emiko Jichi Medical School Assistant (20208341)
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| Project Period (FY) |
1994 – 1995
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| Keywords | Blood group makers / Gene analysis / Red cell culture / Red cell differentation / Rh gene / RFLP / EsD gene / TF gene polymophism |
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| Research Abstract |
The Rh blood group system is of considerable importance in transfusion and clinical medicine. The Rh antigens are carried by a family of hydrophobic membrane proteins (30-32kDa). Molecular studies have resulted in the cloning of several cDNAs for Rh polypeptides ; these can be divided into two different types showing a high level of sequence homology. Both the Rh polypeptides deduced from these two cDNAs consist of 416 amino acid residues predicted to span the membrane bilayr twelve times. Recently, it has been reported that the RH locus is composed of two genes (RHD and RHCE). The RHCE gene appears to encode both the C/c and E/e antigens, probably by alternative splicing. The RHD gene is absent in Caucasian RhD-negative individuals but can be detected in Japanese ones. Several Rh variants have been analyzed and their molecular basis has been revealed. I would like to present the progress in molecular genetics of the Rh blood group system.
The Duffy gene has been shown not to be split by introns, even in its 5'untranslated region and to be expressed not only in erythroid but in postcapillary venule endothelium of almost every organs throughout the body. We reanalyzed the transcriptional start position (TSP) in erythroid and postcapillary venule endothelium by 5'-rapid amplification of cDNA ends procedure and identified a novel exon which encode 7 residues initiated with a methionine, and linked to nucleotide 203 in frame and in agreement with splicing rule. A major TSP in erythroid was identified at 34 base upstream from the first ATG codon, in lung and kidney, at 82 base upstream from the ATG.We cloned 600 base 5'flanking sequence of the novel exon which include one Ap1, two H-APF-1, four Sp-1 and two reversed GATA motifs. The closer GATA sequence, 48 base upstream from the TSP of erythroid, was mutated in black people with Fy (a-b-)phenotype. We performed CAT assay and revealed that the promoter activity in HEL cells was destrupted by the black type mutation.
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