Common Mutation of Plasminogen Detected in Three Asian Populations by an Amplification Refractory Mutation System and Rapid Automated Capillary Electrophoresis

1999 ◽  
Vol 82 (10) ◽  
pp. 1342-1346 ◽  
Author(s):  
Asako Ooe ◽  
Masafumi Kida ◽  
Tomio Yamazaki ◽  
Sang-Chul Park ◽  
Hideo Hamaguchi ◽  
...  
Keyword(s):  
Capillary Electrophoresis ◽  
Genetic Diagnosis ◽  
Amplification Refractory Mutation System ◽  
Common Mutation ◽  
Gene Frequencies ◽  
Chinese Populations ◽  
Asian Populations ◽  
Congenital Deficiency ◽  
Its Gene ◽  
Mutation System

SummaryCongenital deficiency and dysfunction of plasminogen (PLG) are associated with a mild thrombotic tendency. To facilitate the genetic diagnosis of dysPLGemia, we combined an amplification refractory mutation system and rapid automated capillary electrophoresis. Two different fluorescence-labeled PLG-specific primers for exon XV were designed so that each DNA amplified by PCR showed fluorescence of a different wavelength. Single peaks were detected for the normal and the mutant Ala601-Thr alleles, respectively. A study of 90 normal Caucasians revealed no individuals with the mutation, whereas its gene frequency was 0.021 in Japanese. This mutation was also detected in Korean and Chinese populations at gene frequencies of 0.016 and 0.015, respectively. All of the Korean and Chinese cases with the mutation had at least one haplotype I of the PLG gene, as did most Japanese cases. The high frequency of the Ala601-Thr mutation among these Asian populations may be due to the founder effect.

P.arg102ser is a common Pde6? mutation causing autosomal recessive retinitis pigmentosa in Pakistani families

2020 ◽  
pp. 1-15
Author(s):  
Anosha Ali Khan ◽  
Yar Muhammad Waryah ◽  
Muhammad Iqbal ◽  
Hafiz Muhammad Azhar Baig ◽  
Muhammad Rafique ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Homozygosity Mapping ◽  
Amplification Refractory Mutation System ◽  
Common Mutation ◽  
Multi Centre Study ◽  
Bioinformatic Tools ◽  
Mutation System ◽  
The Status ◽  
The University

Abstract Aim: To explore the genetic cause of autosomal recessive retinitis pigmentosa in consanguineous families. Methods: The multi-centre study was conducted from July 2015 to June 2018 at Liaquat University of Medical and health Sciences, Jamshoro, the University of Sindh, Jamshoro, and Islamia University, Bahawalpur, Pakistan, and comprised families affected with non-syndromic autosomal recessive retinitis pigmentosa. Ophthalmological investigations were done to assess the fundus of the patients and the status of the disease. Pedigrees were drawn and family histories were recorded to find out the mode of inheritance. A 10cc sample of whole blood was obtained from each participant and deoxyribonucleic acid was extracted. Homozygosity mapping was performed using three short tandem repeat polymorphisms closely linked to phosphodiesterase 6A gene, and the linked families were Sanger-sequenced for identification of the mutation. Bioinformatic tools were used to design amplification refractory mutation system assay and to assess the protein structure and pathogenic effects of the mutation. Results: In the 80 consanguineous families, there were 464 individuals, and, of them, 236(51%) were affected with their age ranging between 4 and 80 years. Family history and pedigree drawings revealed autosomal recessive retinitis pigmentosa with early childhood onset. Linkage analysis indicated the homozygosity in 6(7.5%) families. Sanger-sequencing revealed a common mutation c.304C>A (p.Arg102Ser); segregating with the disease in the linked families. Conclusion: The findings may offer effective genetic counselling and minimise disease penetration in consanguineous families. Key Words: PDE6a mutations, Retinitis pigmentosa, Pakistan, ARMS assay.

scholarly journals A Novel SNP-STR System Based on a Capillary Electrophoresis Platform

2021 ◽  
Vol 12 ◽  
Author(s):  
Hui Jian ◽  
Li Wang ◽  
Meili Lv ◽  
Yu Tan ◽  
Ranran Zhang ◽  
...  
Keyword(s):  
Capillary Electrophoresis ◽  
Population Data ◽  
Small Region ◽  
Individual Identification ◽  
Amplification Refractory Mutation System ◽  
Dna Mixtures ◽  
Str Loci ◽  
Autosomal Str ◽  
Mutation System ◽  
Allele Specific

Various compound markers encompassing two or more variants within a small region can be regarded as generalized microhaplotypes. Many of these markers have been investigated for various forensic purposes, such as individual identification, deconvolution of DNA mixtures, or forensic ancestry inference. SNP-STR is a compound biomarker composed of a single nucleotide polymorphism (SNP) and a closely linked short tandem repeat polymorphism (STR), and possess the advantages of both SNPs and STRs. In addition, in conjunction with a polymerase chain reaction (PCR) technique based on the amplification refractory mutation system (ARMS), SNP-STRs can be used for forensic unbalanced DNA mixture analysis based on capillary electrophoresis (CE), which is the most commonly used platform in worldwide forensic laboratories. Our previous research reported 11 SNP-STRs, but few of them are derived from the commonly used STR loci, for which existing STR databases can be used as a reference. For maximum compatibility with existing DNA databases, in this study, we screened 18 SNP-STR loci, of which 14 were derived from the expanded CODIS core loci set. Stable and sensitive SNP-STR multiplex PCR panels based on the CE platform were established. Assays on simulated two-person DNA mixtures showed that all allele-specific primers could detect minor DNA components in 1:500 mixtures. Population data based on 113 unrelated Chengdu Han individuals were investigated. A Bayesian framework was developed for the likelihood ratio (LR) evaluation of SNP-STR profiling results obtained from two-person mixtures. Furthermore, we report on the first use of SNP-STRs in casework to show the advantages and limitations for use in practice. Compared to 2.86 × 103 for autosomal STR kits, the combined LR reached 7.14 × 107 using the SNP-STR method in this casework example.

scholarly journals Genetic heterogeneity of beta thalassemia mutations in Kahramanmaraş province in Southern Turkey: preliminary report

Folia Medica ◽  
2021 ◽  
Vol 63 (5) ◽  
pp. 697-703
Author(s):  
Ergul Belge Kurutaş ◽  
Mehmet Emrah Aksan ◽  
Petek Curuk ◽  
Mehmet Akif Curuk
Keyword(s):  
Single Gene ◽  
University Hospital ◽  
Beta Thalassemia ◽  
Amplification Refractory Mutation System ◽  
Common Mutation ◽  
Thalassemic Patient ◽  
Blood Samples ◽  
System Method ◽  
Mutation System ◽  
Thalassemia Trait

Background: Beta thalassemia is one of the most common autosomal single-gene disorders in the world. The prevalence of the disease is in the “thalassemia belt” which includes the Mediterranean region of Turkey; throughout the country the gene frequency is estimated to be 2.1%, but in certain regions, this figure increases to 10%. Aim: In this first study, we aimed to determine the frequency of β-thalassemia trait and distrubition of mutations in Kahramanmaraş province, which is located in the southern part of Turkey. Materials and Methods: In this study; 5 ml blood samples was taken from 14 thalassemic patients and their relatives who were taking care of Sutcu Imam University Hospital at Kahramanmaraş. Also, we collected blood samples from 245 adults for screening beta thalassemia trait. Haematological data were obtained by cell counter.  HbA2 was determined by HPLC. Ten common mutations were screened by ARMS  (Amplification Refractory Mutation System) method. These β-thalassemia mutations are -30 (T>A), Fsc8 (-AA), Fsc8/9 (+G), IVS1-1 (G>A), IVS1-5 (G>C), IVS1-6 (T>C), IVS1-110 (G>A ), Cd 39 ( C>T), IVS2-1 (G>A), IVS 2-745 (C>G). A rare mutation; Fsc44 (-C) was charecterized by DNA sequencing. Results: Ten patients were detected as homozygous for IVS1-110 (seven cases), Fsc 44 (two cases) and IVS1-5 (only one case). Rest of the 4 patients were double heterozygous (two: IVS1-110/IVS1-6, one: Fsc8/Fsc8-9, one: IVS2-1/IVS1-5). In 245 adult, five  β-thalassemia trait were detected by screening survey.  Conclusion: Sixteen alleles were detected as IVS1-110 in 57.1%. It was seen the most common mutation in Kahramanmaraş. Seven different β-thalassemia mutations were found in this study. Each of 10 families have only one thalassemic patient, other two families have double thalassemic patient in total 12 family.

scholarly journals Rapid, inexpensive methods for exploring SARS CoV-2 D614G mutation

2021 ◽  
Author(s):  
Sirwan M.A. Al-Jaf ◽  
Sherko Subhan Niranji ◽  
Zana Hameed Mahmood
Keyword(s):  
Fragment Length Polymorphism ◽  
Taqman Probe ◽  
Nasopharyngeal Swab ◽  
Amplification Refractory Mutation System ◽  
Common Mutation ◽  
Wild Type ◽  
Chain Reaction ◽  
Mutation System ◽  
Polymerase Chain ◽  
Restriction Fragment Length

A common mutation has occurred in the spike protein of severe acute respiratory syndrome coronavirus 2 (SARS CoV-2), known as D614G (A23403G). There are discrepancies in impacting of this mutation on the virus's infectivity, and the whole genome sequencings are expensive and time-consuming. This study aims to develop three fast economical assays for prompt identifications of the D614G mutation including Taqman probe-based real-time reverse transcriptase polymerase chain reaction (rRT PCR), an amplification refractory mutation system (ARMS) RT and restriction fragment length polymorphism (RFLP), in nasopharyngeal swab samples. Both rRT and ARMS data showed G614 mutant indicated by presence of HEX probe and 176bp, respectively. Additionally, the results of the RFLP data and DNA sequencings confirmed the prevalence of G614 mutant. These methods will be important, in epidemiological, reinfections and zoonotic aspects, through detecting the G614 mutant in retro-perspective samples to track its origins and future re-emergence of D614 wild type.

CYP1A1, smoking and venous thromboembolism

2010 ◽  
Vol 104 (10) ◽  
pp. 702-708 ◽  
Author(s):  
Fan-Cui Kong ◽  
Wei-Juan Zhang ◽  
Jin Zhu ◽  
Wen-Jie Zheng ◽  
He-Yao Wang ◽  
...  
Keyword(s):  
Venous Thromboembolism ◽  
Fold Increase ◽  
Chinese Patients ◽  
Amplification Refractory Mutation System ◽  
Chinese Populations ◽  
Cyp1a1 Gene ◽  
Mutation System ◽  
Susceptibility To Smoking ◽  
And Gender ◽  
Tobacco Carcinogens

SummarySince CYP1A1 enzyme is involved in metabolism of tobacco carcinogens, the CYP1A1 gene may be of relevance to smoking-induced differences in the risks of venous thromboembolism (VTE). We conducted a case-control study to investigate genetic polymorphisms in CYP1A1 that might modify the risk of developing VTE. A total of 425 Chinese patients with VTE and 527 VTE-free control individuals, matched by age and gender, were included in this analysis. The MspI and Ile462Val polymorphisms in CYP1A1 gene were analysed using the Amplification Refractory Mutation System (ARMS) method. The Ile462Val AG variant and combined AG and GG variant was significantly associated with VTE, adjusted for age, gender, weight and contraceptives (OR=1.362, 95%CI 1.026, 1.809, p=0.033; OR=1.420, 95% CI 1.081, 1.865, p=0.012, respectively); The AG and GG combined variant was still significantly associated with VTE when adjusting further for smoking (OR=1.344, 95%CI 1.019,1.772, p=0.036) A more than two-fold increase for VTE was associated with the Ile462Val combined variant of AG+GG (OR of 2.805, 95% CI 1.250, 6.293, p=0.012) in the smokers. Genetic variations of CYP1A1 Ile462Val contribute to susceptibility to smoking-induced VTE in the Chinese populations. A two-fold increase in the risk in the smokers in the patients who carry CYP1A1 Ile462Val variant alleles has demonstrated the importance of gene-environment interactions in the development of this disease.

scholarly journals Preimplantation Genetic Diagnosis in Hereditary Hearing Impairment

Diagnostics ◽  
2021 ◽  
Vol 11 (12) ◽  
pp. 2395
Author(s):  
Hsin-Lin Chen ◽  
Pei-Hsuan Lin ◽  
Yu-Ting Chiang ◽  
Wen-Jie Huang ◽  
Chi-Fang Lin ◽  
...  
Keyword(s):  
Hearing Impairment ◽  
Preimplantation Genetic Diagnosis ◽  
Quantitative Polymerase Chain Reaction ◽  
Genomic Medicine ◽  
Genetic Diagnosis ◽  
Amplification Refractory Mutation System ◽  
Mutation System ◽  
Sensorineural Hearing Impairment ◽  
History Of ◽  
Hereditary Hearing Impairment

Sensorineural hearing impairment is a common sensory deficit in children and more than 50% of these cases are caused by genetic etiologies, that is, hereditary hearing impairment (HHI). Recent advances in genomic medicine have revolutionized the diagnostics of, and counseling for, HHI, including preimplantation genetic diagnosis (PGD), thus providing parents-to-be with better reproductive choices. Over the past decade, we have performed PGD using the amplification refractory mutation system quantitative polymerase chain reaction (ARMS-qPCR) technique in 11 couples with a history of HHI, namely eight with GJB2 variants, one with OTOF variants, one with SLC26A4 variants, and one with an MITF variant. We demonstrated that PGD can be successfully applied to HHI of different inheritance modes, namely autosomal dominant or recessive, and phenotypes, namely syndromic or non-syndromic HHI. However, certain ethical concerns warrant scrutiny before PGD can be widely applied to at-risk couples with a history of HHI.

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