OBJECTIVETo analyze an individual with SMIM1 c.64_80 heterozygous deletional mutation and his family members.

METHODSBased on the molecular basis of Vel negative blood type, PCR primers specific for SMIM1 wild-type allele and c.64_80del allele were designed. PCR-sequence specific primer (PCR-SSP) and Sanger sequencing were employed to determine the genotype of all subjects. Inheritance of the Vel blood group system was investigated by pedigree analysis.

RESULTSPCR-SSP and DNA sequencing demonstrated that the proband was heterozygous for the SMIM1 c.64_80del allele. Pedigree investigation showed that his father had the same mutation, while his mother and elder sister were of wide type. No individual with homozygous c.64_80del allele was found.

CONCLUSIONPCR-SSP and DNA sequencing confirmed that the proband was heterozygous for the c.64_80del mutation. The mutation inherits form his father.

Adult ; Blood Group Antigens ; genetics ; Female ; Gene Deletion ; Genetic Testing ; Homozygote ; Humans ; Male ; Membrane Proteins ; genetics ; Pedigree ; Sequence Analysis, DNA

OBJECTIVETo analyze a sample with ABO subgroup using serological and molecular methods.

METHODSThe ABO phenotype of the sample was determined with a tube method, and the activity of glycosyltransferases was determined with an uridine diphosphate galactose transferring method. The ABO gene of the propositus was identified by PCR with sequence-specific primers (PCR-SSP). In addition, exons 6 and 7 of the ABO gene were cloned and sequenced.

RESULTSNeither A nor B antigen was identified in the propositus, despite that its anti-B antibody was found to be attenuated. No activity of α -1, 3-D-galactosyltransferase was detected in the serum. The presence of B and O alleles were confirmed by PCR-SSP, and a novel mutation (562C to T) of the exon 7 was confirmed by sequencing, which has led to an amino acid substitution (Arg to Cys) at position 188. The genotype of the propositus was determined as Bnew/O.

CONCLUSIONA novel B allele has been identified, which was named as Bw39 by the Blood Group Antigen Gene Mutation Database (BGMUT).

ABO Blood-Group System ; genetics ; Adult ; Alleles ; Amino Acid Substitution ; Base Sequence ; Exons ; Galactosyltransferases ; genetics ; Humans ; Male ; Molecular Sequence Data ; Point Mutation

OBJECTIVE: To screen for Vel- rare blood type donors and determine the frequency of SMIM1 c.64_80del allele in Yili Prefecture of Xinjiang, China. METHODS: DNA pooling and PCR-sequence-specific primers (PCR-SSP) was conducted to screen individuals carrying the SMIM1 c.64_80del variant, and Sanger sequencing of SMIM1 exon 3 was carried out to verify the genotype of those with the variation. SMIM1 intron 2 was also sequenced to identify single nucleotide polymorphisms (SNPs) that may affect the expression of Vel antigen. RESULTS: Among 3328 blood donors, 14 were identified as heterozygotes for the SMIM1 c.64_80del allele, its allele frequency was 0.21%; no homozygous SMIM1 c.64_80 deletions was found. For SNP rs1175550, all of the 14 individuals had an AA genotype, among whom 5 carried heterozygous 7111ins GCA variant in intron 2. CONCLUSION The allelic frequency of SMIM1 c.64_80del in Yili area is approximately 0.21%, which is reported for the first time.
Alleles ; Blood Group Antigens/genetics* ; China ; Gene Frequency ; Genetic Variation/genetics* ; Genotype ; Humans ; Membrane Proteins/genetics* ; Polymorphism, Single Nucleotide/genetics*

Objective:To explore the feasibility of quantitative evaluation of extracellular volume (ECV) fraction in acute ST-segment elevation myocardial infarction (STEMI) by dual-layer spectral detector CT.Methods:The clinical and imaging data of 20 patients with STEMI who underwent cardiac contrast-enhanced CT and MRI from January to October 2019 in Renji Hospital affiliated to Shanghai Jiaotong University School of Medicine were retrospectively analyzed.The dual spectral detector was used in the enhanced CT scan of the coronary artery with retrospectively gate and the late iodine enhancement with prospective gate. Conventional image and holographic spectral image were obtained by iterative and spectral reconstruction. The short axis image of the heart matched with MR image was obtained by multiplanar reconstruction. Based on the data of spectral based image, the IDD map was reconstructed for the calculation of myocardial CT-ECV during the late iodine enhancement. ECV of infarcted myocardium, salvageable myocardium and remote myocardium based on CT and MRI were calculated respectively. Bland-Altman consistency test and intra group correlation coefficient analysis (ICC) were used to compare the consistency of two measurements and different methods. The correlation between CT-ECV and MRI-ECV was compared by Spearman method.Results:The CT-ECV values of infarcted, salvageable, and remote myocardium were 51.21 (49.27, 53)%, 38.64 (36.17, 40)%, and 51.21 (49.27, 53)%, respectively. The difference was statistically significant ( H= 43.17, P<0.01). The CT-ECV value of infarcted myocardium was significantly higher than that of salvageable myocardium and remote myocardium ( Z=-24.60, 35.40, P<0.01), but there was no significant difference between salvageable myocardium and remote myocardium ( Z= 10.80, P=0.15). The T 1 values of infarcted myocardium, salvageable myocardium and remote myocardium were (1 554.85±70.94), (1 443.85±67.28) and (1 307.05±91.73) ms respectively, the difference was statistically significant ( F=51.35, P<0.01). The T 1 value of infarcted myocardium was higher than that of salvageable myocardium and remote myocardium ( t=-5.07, 9.55, P<0.01), and salvageable myocardium was significantly higher than that of remote myocardium ( t=5.38, P<0.01). The MRI-ECV values of infarcted myocardium, salvageable myocardium and remote myocardium were 55.00 (49.27, 57.75)%, 33.50 (29.00, 35.00)%,and 27.00 (26.00, 29.00)%, respectively. The difference was statistically significant ( Z= 47.12, P<0.01). MRI-ECV of infarcted myocardium was significantly higher than that of salvageable myocardium and remote myocardium ( Z=37.45, -20.30, P< 0.01), and salvageable myocardium was significantly higher than that of remote myocardium ( Z = 17.15, P<0.05). The difference between CT-ECV and MRI-ECV measured by two physicians was good. The bias of Bland-Altman analysis was -0.1% (95% CI:-5.5%-5.2%), 0.8% (95% CI:-9.8%-8.2%), and the ICC values were 0.92 and 0.94, respectively. The bias of Bland-Altman analysis in CT-ECV and MRI-ECV consistency test was 4.00% (95% CI:-9.0%-16.9%) and ICC value was 0.88, which had a good correlation ( r=0.75, P=0.001). Conclusions:The iodine density based ECV fromdual-layer spectral detector CT can be used to quantitatively evaluate the changes of extracellular space after acute STEMI, which is helpful to quantitatively evaluate the histological changes after myocardial ischemia.