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1.
Article in English | MEDLINE | ID: mdl-38551517

ABSTRACT

BACKGROUND: Given the complex etiology, multidimensional impact, and widespread prevalence of low back pain (LBP), it is crucial to prioritize intervention targets based on understanding the relationships between functional impairments in patients. This prioritization maximizes the physical and psychological benefits for patients, and graph modeling holds promise in achieving these objectives. AIM: The aim of this study was establishing a graphical model of functioning variables for LBP based on the International Classification of Functioning, Disability, and Health (ICF) to identify the most influential items (i.e., functioning variables) on the physical and mental well-being of patients. Exploring feasible intervention measures by understanding the dysfunction correlations among these variables. DESIGN: Cross-sectional survey. SETTING: Nine hospitals in Jiangsu Province, China. POPULATION: Three hundred and six persons with LBP aged ≥18 years. METHODS: All patients were assessed using the Comprehensive ICF Core Sets for LBP. The scoring system was converted to dichotomous data, with 1 indicating dysfunction and 0 indicating no dysfunction. In the graphical model, network parameters and the results of Item Response Theory modeling (as detailed in our other article) were used to determine the importance of items, while partial correlations were utilized to estimate the dysfunction correlations between functioning variables. RESULTS: 1) A total of 56 ICF items were located in the backbone structure of LBP, among which d430 (Lifting and carrying objects) occupied the most central position, followed by b126 (Temperament and personality functions). 2) In the main component of backbone structure, d430 has moderate dysfunction correlation with looking after one's health (0.6027), social norms, practices and ideologies (0.597), stability of joint functions (0.5759), and emotional functions (0.4078). b126 has moderate dysfunction correlation with basic interpersonal interactions (0.6595). CONCLUSIONS: d430 and b126 significantly impact the physical and mental well-being of LBP patients. To improve d430, maintaining exercise habits, reducing working hours, enhancing lumbar stability, and overcoming fear-related emotions are recommended. Similarly, improving b126 can be achieved through enhancing interpersonal relationships. CLINICAL REHABILITATION IMPACT: Through the identification of crucial functioning variables and the associated dysfunctional correlation relationships, graphical model of Comprehensive ICF Core Set for LBP can offer healthcare decision-makers valuable insights into potential treatment targets and pathways aimed at improving the condition of LBP patients.

2.
Biochem Genet ; 2023 Oct 31.
Article in English | MEDLINE | ID: mdl-37906301

ABSTRACT

Dysomma anguillare is a demersal eel widespread distributing in tropical waters of the Indo-West Pacific and Atlantic. As an important component of the coastal fishery and marine ecosystem, the lack of genomic information for this species severely restricts the progress of relevant researches. In this study, the abecedarian genome-wide characteristics and phylogenetic relationships analyses were carried out based on next-generation sequencing (NGS) platform. The revised genome size was approximately 1 310 Mb, with the largest scaffold length reaching 23 878 bp through K-mer (K = 17) method. The heterozygosity, repetitive rate and average GC content were about 0.94%, 51.93% and 42.23%, respectively. A total of 1 160 104 microsatellite motifs were identified from the de novo assembled genome of D. anguillare, in which dinucleotide repeats accounted for the largest proportion (592 234, 51.05%), the highest occurrence frequency (14.58%) as well as the largest relative abundance (379.27/Mb). The high-polymorphic and moderate-polymorphic loci composed around 73% of the total single sequence repeats (SSRs), showing a latent capacity for subsequent population genetic structure and genetic diversity appraisal researches. Another byproduct of whole-genome sequencing, the double-stranded and circular mitogenome (16 690 bp) was assembled to investigate the evolutionary relationships of D. anguillare. The phylogenic tree constructed with maximum likelihood (ML) method showed that D. anguillare was closely related to Synaphobranchidae species, and the molecular systematic results further supported classical taxonomy status of D. anguillare.

3.
Eur J Phys Rehabil Med ; 59(5): 593-604, 2023 Oct.
Article in English | MEDLINE | ID: mdl-37733333

ABSTRACT

BACKGROUND: The nutritional status of individuals with cancer is a crucial determinant of their health and well-being, and addressing nutrition-related functioning conditions is essential for maintaining physical activity levels and participating in daily activities. AIM: This study aims to identify an evidence-based International Classification of Functioning, Disability and Health (ICF) scale using item response theory for nutrition conditions in patients with cancer, which can differentiate and assess nutrition-related functioning conditions of cancer survivors. DESIGN: Cross-sectional study. SETTING: Sir Run Run Hospital, Nanjing Medical University. POPULATION: One hundred cancer patients were enrolled. METHODS: Via convenience sampling, the study administered a questionnaire consisting of 89 ICF items to participants. The original five-point rating system was binarized (1 = no problem, 0 = problem). Through data shaping, non-parametric IRT analysis and parametric IRT analysis, psychometric properties of nutritional ICF scale were calculated using R software. RESULTS: The study extracted a unidimensional scale with 32 items and constructed 2-parameter logistic model with good fitness, whose root mean square error approximation (RMSEA) = 0.0759, Tucker-Lewis Index (TLI) = 0.9655, and Comparative Fit Index (CFI) = 0.9677. The model demonstrated high reliability, as indicated by a Cronbach's α of 0.95, Guttman λ2 of 0.95, Molenaar Sijtsma statistic of 0.96 and a latent class reliability coefficient (LCRC) of 0.98. Besides, there was a strong correlation between the total score of 32 ICF items and the score of Patient-Generated Subjective Global Assessment (PG-SGA, P<0.001, r=-0.77) and Mini Nutritional Assessment (MNA, P<0.001, r=0.76), suggesting the 32-item scale had high validity. CONCLUSIONS: The study constructed an evidence-based ICF scale for nutrition conditions in patients with cancer with 32-item and 2PLM for evaluating nutrition-associated health level in persons with cancer, including high validity and reliability. CLINICAL REHABILITATION IMPACT: The IRT model based on ICF provided a promising assessment tool to discriminate nutrition-associated health level of persons with cancer, and offered an auxiliary method for selecting rehabilitation intervention targets. This has the potential to lead to improved outcomes in cancer treatment and increased quality of life for cancer survivors.


Subject(s)
Neoplasms , Quality of Life , Humans , International Classification of Functioning, Disability and Health , Disability Evaluation , Nutritional Status , Cross-Sectional Studies , Reproducibility of Results , Health Status , Surveys and Questionnaires , Psychometrics
4.
Environ Technol ; 44(23): 3504-3517, 2023 Sep.
Article in English | MEDLINE | ID: mdl-35389329

ABSTRACT

Masses of iron sludge generated from engineering practice of classic Fenton reaction constraints its further promotion. Accelerating the FeIII/FeII cycle may be conducive to reducing the initial ferrous slat dosage and the final iron sludge. Based on the reduction of Pd/MIL-100(Fe)-activated hydrogen, an improved Fenton system named MHACF-MIL-100(Fe) was developed at ambient temperature and pressure. 97.8% of sulfamethazine, the target pollutant in this work, could be degraded in 5 min under the conditions of 20 mM H2O2, 25 µM ferrous chloride, initial pH 3.0, 2 g·L-1 composite catalyst Pd/MIL-100(Fe) and hydrogen gas 60 mL·min-1. Combining density functional theory (DFT) calculation and intermediate detection, the degradation of this antibiotic was inferred to start from the cleavage of N-S bond. The catalytic of Pd/MIL-100(Fe), demonstrated by the removal efficiency of SMT and the catalyst morphology, remained intact after six reaction cycles. The present study provides an insight into the promotion of Fenton reaction.


Subject(s)
Ferric Compounds , Sulfamethazine , Hydrogen Peroxide/chemistry , Sewage , Iron/chemistry , Ferrous Compounds , Oxidation-Reduction
5.
Eur J Phys Rehabil Med ; 59(6): 731-742, 2023 Dec.
Article in English | MEDLINE | ID: mdl-38214044

ABSTRACT

BACKGROUND: Despite the growing interest of the item response theory (IRT) in assessment of person abilities and functioning difficulties in screening tools, there is scarcity of research using IRT on ICF-based tools for persons with low back pain (LBP). AIM: To generate and validate a parsimonious core set of ICF (PCSI) for LBP based on the IRT modelling. DESIGN: A cross-sectional study. SETTING: Nine hospitals in Jiangsu Province, China. POPULATION: We recruited patients with LBP. METHODS: All participants completed the 78 items of the comprehensive ICF Core Set for LBP. The five-point scoring system was converted to dichotomous data with 1 as functioning/independent and 0 as impairment/dependent. Psychometric properties of the data were examined using Mokken Scale analysis and parametric item response modelling. RESULTS: This study recruited 306 participants (185 females and 121 males) with LBP. The overall median age of the study participants was 50.28 (95% CI 23.34; 82.05) years. We constructed a three-parameter logistic model with 28 ICF categories (8 of body function, 18 of activities and participation, and two of body structures). The internal consistency was good with Cronbach's alpha = 0.927 and latent class reliability coefficient (LCRC) = 0.955. The model was validated by significant correlations (P<0.001) of its estimated person abilities with the Oswestry Disability Index (ODI, r=-0.41), the Roland-Morris Disability Questionnaire (RMDQ, r=-0.57), the Physical Component Summary (PCS, r=0.63), and the Mental Component Summary (MCS, r = 0.46) of 12-Item Short Form Survey (SF-12). The person abilities and item difficulties were integrated into a Wright map that offered a background for making individualized clinical decisions. CONCLUSIONS: The PCSI of LBP with 28 categories has good construct validity and internal consistency, and is a convenient instrument for assessing functioning among persons with LBP. The IRT model provided theoretical and algorithmic support for deriving a simplified model for functioning assessment hence serving a basis for formulating rehabilitation plans in clinical practice and research. CLINICAL REHABILITATION IMPACT: A parsimonious core set of ICF (PCSI) for LBP based on the IRT modelling provides a background for making individualized clinical decisions based on item difficulties.


Subject(s)
Low Back Pain , Male , Female , Humans , Cross-Sectional Studies , Reproducibility of Results , Disability Evaluation , Surveys and Questionnaires , Psychometrics
7.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 29(5): 547-52, 2012 Oct.
Article in Chinese | MEDLINE | ID: mdl-23042391

ABSTRACT

OBJECTIVE: A reliable method for genotyping blood group antigens Dib, k, Jsb1910 and Jsb2019 was developed. Through screening for rare blood types, the National Rare Blood Bank of China may be enriched. METHODS: The controls for allele detection of blood groups Dib, k, Jsb1910 and Jsb2019 were prepared via polymerase chain reaction (PCR)-mediated gene site-directed mutagenesis (SDM) technique. Sequence-specific primers were designed according to known single nucleotide polymorphism (SNP) sites of alleles of blood groups antigens Dib, k, Jsb1910 and Jsb2019, a multiplex PCR system was developed by optimizing PCR reaction system. And 4190 random healthy donors samples were screened for the blood group antigens. RESULTS: Using SDM technique, controls for alleles in blood group Dib, k, Jsb1910 and Jsb2019 were successfully generated. And a multiplex PCR system for genotyping above blood groups was developed. After verification, the system has performed with good stability and reproducibility. Two Di (b-) samples have been discovered from 4190 samples, no k- and Js(b-) sample was found. CONCLUSION: Multiplex PCR features rapid detection, high throughput and low cost, and can be used for screening for donors of rare blood types. Information of donors may be registered in a database, which in turn can help those with rare blood types or require long-term blood transfusion to obtain matched blood, thereby reduce the adverse reactions of blood transfusion.


Subject(s)
Blood Group Antigens/genetics , Erythrocytes/immunology , Genotyping Techniques , Multiplex Polymerase Chain Reaction/methods , Humans , Mutagenesis, Site-Directed , Polymorphism, Single Nucleotide
8.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 27(6): 634-8, 2010 Dec.
Article in Chinese | MEDLINE | ID: mdl-21154322

ABSTRACT

OBJECTIVE: To establish the controls for allele detection of blood groups s and Ok(a). A multiplex PCR method for the detection of three blood group antigens Fy(a), s and Ok(a) was developed and used to investigate the distribution of these blood groups in Chinese random blood donors. METHODS: Polymerase chain reaction (PCR)-based, gene site-directed mutagenesis (SDM) technique were used to make site-directed mutagenesis for the single nucleotide polymorphism (SNP) sites of the blood group alleles (the 153 C/T point mutation of the GYPB gene, and the 274 G/A point mutation of the BSG gene) as controls for allele detection. Sequence specific primers were designed according to the SNP sites of alleles of blood group antigens Fy(a), s and Ok(a). A multiplex PCR system was developed and 438 random donor samples were screened for the blood group antigens Fy(a), s and Ok(a). RESULTS: The controls for alleles in blood groups s and Ok(a) were successfully made with the SDM technique, a multiplex PCR system was set up and successfully used to analyze the genotypes of three blood group antigens Fy(a), s and Ok(a). Two Fy(a-) samples were detected in the 438 samples, no s- and Ok(a-) sample was found. CONCLUSION: The PCR-based SDM technique can be used to obtain the unavailable controls in blood group genotyping. The multiplex PCR technique established in this study is an efficient genotyping method for blood groups Fy(a), s and Ok(a).


Subject(s)
Blood Group Antigens/genetics , Blood Grouping and Crossmatching/standards , Polymerase Chain Reaction/standards , Alleles , Base Sequence , Blood Donors , Genotype , Humans , Mutagenesis, Site-Directed , Polymorphism, Single Nucleotide , Reference Standards
9.
Transfus Med ; 20(6): 369-75, 2010 Dec.
Article in English | MEDLINE | ID: mdl-20670356

ABSTRACT

AIMS/OBJECTIVE: This work aims to explain the complexity of the Knops blood group system in the Chinese population. BACKGROUND: The Knops blood group system consists of antigens encoded by CR1 gene exon 29. METHODS: A total of 281 individuals from the Han, Uigur, Tu, Lisu and Dong ethnic groups were studied. The coding region of the CR1 gene of 11 Han donors was analysed using reverse transcription-polymerase chain reaction (PCR) and sequencing. CR1 gene exon 29 in the 39 samples was analysed through genomic DNA sequencing. According to the sequencing result, a PCR-sequence-specific primers system was designed to screen the A4646G and A4870G alleles in the Chinese population. RESULTS: Twelve single nucleotide polymorphisms (SNPs) were observed in the coding region of the CR1 gene in the Han population. Two SNPs (A4646G and A4870G) were detected in the CR1 gene exon 29. The 4646G allele was found only in the Uigur and Tu ethnic groups, in which the allele frequencies were 0·11 and 0·06, respectively. The frequencies of the 4870A allele in the Han, Uigur, Tu, Lisu and Dong ethnic groups were 0·82, 0·83, 0·82, 0·57 and 0·57, respectively. CONCLUSIONS: The CR1 gene in the Chinese people is more conservative than that in the Caucasian or African people. Different Chinese ethnic groups may have their own different CR1 gene characteristics. The existence of 4646G in the Uigur and Tu ethnic groups suggests that both may carry certain Caucasian characteristics in the CR1 gene. The frequency of 4870G in the Lisu and Dong ethnic groups implies possible incidence of evolutionary pressure similar to what the Africans had experienced.


Subject(s)
Asian People/genetics , Blood Group Antigens/genetics , Ethnicity/genetics , Gene Frequency , Polymorphism, Single Nucleotide , Receptors, Complement 3b/genetics , Alleles , China , Evolution, Molecular , Exons/genetics , Humans
10.
Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi ; 25(9): 805-7, 810, 2009 Sep.
Article in Chinese | MEDLINE | ID: mdl-19737466

ABSTRACT

AIM: To Construct Fab antibody against Rh antigen. METHODS: The variable regions of light and heavy chains were amplified by RT-PCR from the PBMCs of volunteers with high titer (1:256-512 by inditect agglutation) antibody to Rh antigen. Meanwhile, the genes of constant regions of light and heavy chains were isolated from pComb3xTT and pComb3xlambda phagmid carrying the templates respectively. Vkappa light chain and Fd heavy chain were linked by the first splicing overlapping extension PCR (SOE), and a full-length Fab gene was created by the second SOE. The Fab gene was ligated to phagmid pComb3HxSS and transformed to E.coli XL1-Blue by electroporation. The obtained human Fab phage antibody library was panned using Rh(-)/Rh(+) RBC four times. the phage antibodies against Rh antigen were highly enriched. Indirect agglutation test, western blot analysis and sequencing analysis were performed to detect the specificity of Fab against Rh. RESULTS: The repertoire of human phage display Fab library was 7.4 x 10(6);. After panning, A Fab clone which could bind to Rh antigen specifically was obtained. CONCLUSION: A Fab antibody that specifically aggulated Rh(+) RBC is obtained, this makes it possible to produce Rh antibody with high quantity and effection in our country.


Subject(s)
Antibodies/genetics , Genetic Engineering , Immunoglobulin Fab Fragments/genetics , Rh-Hr Blood-Group System/immunology , Antibodies/immunology , Humans , Immunoglobulin Fab Fragments/immunology , Immunoglobulin Heavy Chains/genetics , Immunoglobulin Heavy Chains/immunology , Immunoglobulin Light Chains/genetics , Immunoglobulin Light Chains/immunology , Peptide Library , Rh-Hr Blood-Group System/genetics
11.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 17(3): 706-12, 2009 Jun.
Article in Chinese | MEDLINE | ID: mdl-19549392

ABSTRACT

To evaluate the roles of 8 short tandem repeats (STR) loci as STR panel in quantitative analysis of chimerism following transplantation, the primers were synthesized and marked with different dyes for D3S3045, D4S2366, D4S2639, D5S818, D13S317, D18S1002, D20S481 and D22S689. The blood samples of 15 cases received allogeneic stem cell transplantation were collected before and after transplantation, then DNA was extracted and amplified with these primers, and was further analysed under ABI Genetic Analyser 3100 to select suitable informative STR locus. Donor/recipient dilution series were prepared to get standard curves in selected loci, the DNAs extracted at different days after transplantation were used to quantitatively analyze the chimerism in patients according to the values of peak area or peak height of fluorescent signals. The standard curves can be used to calculate the chimerism by plotting the respective R/D quotient value against the percentage of recipient DNA. The results indicated that the calculated chimerism was in concordance with the donor/recipient dilution. The STR panel succeeded in identifying at least one informative marker and quantitative monitoring the chimerism after HSCT in 15 donor-recipient pairs and a relapsed case was diagnosed. It is concluded that the STR panel and its detection method can accurately and quantitatively monitor the chimerism after allogeneic HSCT, which is more economical and flexible than using commercial kits.


Subject(s)
Hematopoietic Stem Cell Transplantation , Microsatellite Repeats , Transplantation Chimera/genetics , DNA/genetics , DNA Primers , Humans
12.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 24(2): 186-8, 2007 Apr.
Article in Chinese | MEDLINE | ID: mdl-17407078

ABSTRACT

OBJECTIVE: To investigate the polymorphism of Kell blood group system in Chinese and to find a suitable method for large scale screening. METHODS: An analysis method of polymerase chain reaction-restriction fragment-single strand conformation polymorphism (PCR-RF-SSCP) combined with heteroduplex was established to detect abnormal sample in KEL exon 7-9 area, then sequencing was used to find out the mutation site. RESULTS: Two mutations were found from 500 samples: 966G > A mutation in exon 9 and C > A mutation in 67th site of intron 7, both with no amino acid change. The mutation rate was 4/1000. No mutation was found as missed in using PCR-RF-SSCP combined with heteroduplex. CONCLUSION: PCR-RF-SSCP combined with heteroduplex is confirmed as an effective, economical and simple method, it is quite suitable for large scale population screening study with unclear gene background and unavailable positive controls. Since there is special polymorphism for Kell blood group system in Chinese, further study is needed.


Subject(s)
Heteroduplex Analysis/methods , Kell Blood-Group System/genetics , Polymerase Chain Reaction/methods , Asian People/genetics , China , Humans , Polymorphism, Restriction Fragment Length , Polymorphism, Single-Stranded Conformational
13.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 23(5): 486-91, 2006 Oct.
Article in Chinese | MEDLINE | ID: mdl-17029192

ABSTRACT

OBJECTIVE: To elucidate the molecular background of Del phenotype in the Chinese population and explore new Del alleles. METHODS: Five hundred and fifteen RhD negative blood samples was tested by Rh typing test, indirect antiglobulin test and adsorption and elution assay to screen the Del phenotype. DNA of all the Del samples was analysed by multiplex polymerase chain reaction (MPX PCR) for the presence of RHD and by sequence-specific primer polymerase chain reaction (PCR-SSP) for Del alleles: RHD 1227A and RHD 885T. Samples which showed the negative result by PCR-SSP, were additionally analysed by genomic DNA sequencing and cDNA sequencing. RESULTS: Seventy-nine Del samples were found by adsorption and elution assay. All these samples had RHD exons 3, 4, 5, 6, 7 and 9. Except 4 Del samples, other 75 Del samples carried the RHD 1227A allele. None of the samples had the RHD 885T allele. Four novel RHD alleles were found in these four Del sample. There were RHD 3G-->A (GenBank DQ310735), RHD 28C-->T, RHD 53T-->C (GenBank DQ451877,DQ451878), RHD 251T-->C (GenBank DQ310734). CONCLUSION: fnRh blood group system is very complex. New D variation phenotypes and new RHD alleles may be discovered ceaselessly.


Subject(s)
Genetics, Population/methods , Rh-Hr Blood-Group System/genetics , Alleles , Asian People/genetics , Base Sequence , China , Gene Frequency , Genotype , Humans , Molecular Sequence Data , Mutation , Phenotype , Polymerase Chain Reaction , Sequence Analysis, DNA
14.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 21(5): 417-21, 2004 Oct.
Article in Chinese | MEDLINE | ID: mdl-15476160

ABSTRACT

OBJECTIVE: This is a study on the allele composing of ABO, FUT1 and FUT2 gene loci of 10 para-Bombay individuals in China. METHODS: Ten samples coming from different districts of China were suspected of para-Bombay phenotype by primary serology tests. Routine and absorb-elution tests were conducted to identify their ABO type, and duplex polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was applied to getting their ABO genotype. Most of them were submitted to a test of their Lewis type as well. Then through direct DNA sequencing with PCR products of FUT1 and FUT2 genes, the genotypes of their H and SE gene loci were analyzed. RESULTS: It can be confirmed that the 10 samples are para-Bombay. All of their ABO genotypes are consistent with the serological absorb-elution results and the substances detected results in saliva. Seven out of 10 have recessive homozygous gene at their H locus. Each phenotype of h1h1 (nt547-552Deltaag), h2h2 (nt880-882Deltatt) and h4h4 (nt35 t-->c) are ascertained in 2 individuals; moreover, h3h3 (nt 658 c-->t) is identified in one individual. The rest are hh heterozygous individuals: one is h3/h(new-1); the other is h2/h(new-2); the last one is h1/h2. The h(new-1) (nt586 c-->t) allele has a point mutation at nt 586 C to T, which leads a nonsense mutation Gln(CAG) to stop (TAG).The second h (new-2) (nt328 g-->a) has an nt328 G to A missense mutation,which leads Ala (GCC),was replaced by Thr (ACC) at 110 amino acid position. All the 10 samples have Se (nt357 c-->t) synonymous mutation. One Bm(h) (B/O) individual with h4h4 phenotype has a Se(w)(nt357 c-->t; nt385 a-->t) allele, whose Lewis type is Le(a+b+). Moreover, the authors detected a (nt716 g-->a) mutation in two samples' Se gene. CONCLUSION: Four kinds of known h alleles (h1-h4), 2 kinds of novel non-functional FUT1 alleles, a Se(w) allele, and a novel SeG716A polymorphism in Chinese para-Bombay individuals were detected. At the same time, the authors noticed that all the 10 samples have the nt357 c-->t mutation in their FUT2 gene.


Subject(s)
ABO Blood-Group System/genetics , Fucosyltransferases/genetics , Mutation, Missense , Alleles , China , DNA Mutational Analysis , Genotype , Humans , Isoenzymes/genetics , Polymerase Chain Reaction , Polymorphism, Restriction Fragment Length , Galactoside 2-alpha-L-fucosyltransferase
15.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 21(4): 321-4, 2004 Aug.
Article in Chinese | MEDLINE | ID: mdl-15300625

ABSTRACT

OBJECTIVE: This is a study on some ABO subgroup samples which show discordant results of serological and molecular blood typing, the aim is to clarify their true ABO type by means of nucleotide analysis on exons 6 and 7 of their ABO gene. METHODS: Absorb-elution test and family investigation were conducted to study 7 samples which were involved in ABO grouping discrepancies. Duplex polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) method was used to identify their ABO genotypes. PCR products of exons 6 and 7 were cloned and sequenced. RESULTS: All the 7 ABO subgroup samples with the discordant results of serological and molecular blood typing were found to have the normal O gene. Four out of them were typed as ABsub by serology, they were all of the A*102/O genotype. Sequencing analysis found all their A gene having the nt467 (C-->T) and nt803 (G-->C) mutation by comparison with the A*101 allele, i.e. their real type should be CisAB/O. Three out of 7 were typed as AsubB by serology and as BO by genotype; and point mutation was detected in all of their B gene. One of them had the nt700 (C-->G) mutation, the other 2 unrelated individuals had the novel nt640 (A-->G) mutation in their B alleles. CONCLUSION: Through nucleotide analysis, 7 samples have been typed as AB subgroup in serology with the normal O gene, their real ABO type being CisAB in 4 cases and B(A) in 3 cases. At the same time, a kind of novel B (A)640 allele has been uncovered in this study.


Subject(s)
ABO Blood-Group System/genetics , Mutation , Asian People/genetics , Blood Grouping and Crossmatching , China , Female , Genotype , Humans , Male , Polymerase Chain Reaction , Polymorphism, Restriction Fragment Length
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