Genetic testing and molecular biomarkers最新文献

{"title":"The Association between Obesity Susceptibility and Polymorphisms of MC4R, SH2B1, and NEGR1 in Tibetans.","authors":"Ting Huang, Xianpeng Zhang, Qiang Li, Xin Li, Jie Yao, Jia Song, Ying Chen, Liping Ye, Chunshan Li, Pingcuo Xiran, Youfeng Wen","doi":"10.1089/gtmb.2023.0546","DOIUrl":"10.1089/gtmb.2023.0546","url":null,"abstract":"<p><p><b><i>Background:</i></b> A high-altitude environment has inhibitory effects on obesity. Tibetans are not a high-risk population for obesity, but there are still obese individuals within that population. Obesity has become a worldwide health problem, and previous studies have found that obesity is closely associated with hereditary factors. Few studies have investigated obesity in Tibetans, and the association between gene polymorphisms and obesity in Tibetans remains unclear. <b><i>Methods:</i></b> Our study investigated the fat mass of 140 native Tibetan individuals (70 men and 70 women) from Lhasa and analyzed the associations between polymorphisms of melanocortin 4 receptor (MC4R), Src homology 2B adapter protein 1 (SH2B1), and neuronal growth regulator 1 (NEGR1) and obesity. <b><i>Result:</i></b> Among Tibetan individuals, there were differences in genotype and allele frequencies between those in the obesity group and those in the healthy group at MC4R (rs17782313) and SH2B1 (rs7359397). The polymorphisms of MC4R (rs17782313) were associated with fat mass and obesity in Tibetan men and women, and there was an association between SH2B1 (rs7359397) polymorphisms and fat mass and obesity in Tibetan men. However, polymorphisms of NEGR1 (rs3101336) were not associated with fat mass or obesity in Tibetan individuals. <b><i>Conclusion:</i></b> Among Tibetan individuals, polymorphisms of MC4R (rs17782313) and SH2B1 (rs7359397) were associated with obesity, but NEGR1 (rs3101336) polymorphisms were not associated with obesity.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":"28 7","pages":"267-274"},"PeriodicalIF":1.1,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141733939","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of <i>ACTN4</i> Gene Mutation with Primary Nephrotic Syndrome in Children in Guangxi Autonomous Region, China.","authors":"Shan Cao, Dan Wang, Lixiao Liu, Junyan Yao, Lingli Wang, Yang Liao, Jinfeng Zhang, Jie Zhao, Ying Huang, Zhiyan Hao","doi":"10.1089/gtmb.2023.0567","DOIUrl":"10.1089/gtmb.2023.0567","url":null,"abstract":"<p><p><b><i>Objective:</i></b> To investigate the association between <i>ACTN4</i> gene mutation and primary nephrotic syndrome (PNS) in children in Guangxi Autonomous Region, China. <b><i>Methods:</i></b> The high-throughput sequencing technology was used to sequence <i>ACTN4</i> gene in 155 children with PNS in Guangxi Autonomous Region in China, with 98 healthy children serving as controls. Twenty-three exon-specific capture probes targeting <i>ACTN4</i> were designed and used to hybridize with the genomic DNA library. The targeted genomic region DNA fragments were enriched and sequenced. The protein levels of <i>ACTN4</i> in both case and control groups were quantified using ELISA method. <b><i>Results:</i></b> Bioinformatics analysis revealed five unique <i>ACTN4</i> mutations exclusively in patients with PNS, including c.1516G>A (p.G506S) on one exon in 2 patients, c.1442 + 10G>A at the splice site in 1 patient, c.1649A>G (p.D550G) on exon in 1 patient, c.2191-4G>A at the cleavage site in 2 patients, and c.2315C>T (p.A772V) on one exon in 1 patient. The c.1649A>G (p.D550G) and c.2315C>T (p.A772V) were identified from the same patient. Notably, c.1649A>G (p.D550G) represents a novel mutation in <i>ACTN4</i>. In addition, three other <i>ACTN4</i> polymorphisms occurred in both case and control groups, including c.162 + 6C>T (1 patient in case group and 2 patients in control group), c.572 + 11G>A (1 patient in case group and 2 patients in control group), and c.2191-5C>T (4 patients in the case group and 3 patients in control group). The serum ACTN4 concentration in the case group was markedly higher, averaging 544.7 ng/mL (range: 264.6-952.6 ng/mL), compared with 241.20 ng/mL (range: 110.75-542.35 ng/mL) in the control group. <b><i>Conclusion:</i></b> Five <i>ACTN4</i> polymorphisms were identified among children with PNS in Guangxi Autonomous Region, China, including the novel mutation c.1649A>G. The lower serum levels of α-actinin-4 in the case group suggest that this protein might play a protective role in PNS.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"281-288"},"PeriodicalIF":1.1,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141476396","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Evaluation of the Genetic Variation Types of the <i>Uridine Diphosphate Glucuronosyl Transferase 1A1</i> Gene by Next-Generation Sequencing and Their Effects on Bilirubin Levels in Obese Children.","authors":"Merve Aslantas, Onder Kilicaslan, Recep Eröz, Kenan Kocabay","doi":"10.1089/gtmb.2023.0365","DOIUrl":"10.1089/gtmb.2023.0365","url":null,"abstract":"<p><p><b><i>Background and Objectives:</i></b> Obesity is a major nutritional problem with an increasing prevalence among children and adolescents. The <i>uridine-diphosphate-glucuronosyl-transferase1A1</i> (<i>UGT1A1</i>) gene encodes the UDP-glucuronosyl transferase enzyme, converting the toxic form of bilirubin to a soluble, nontoxic form. There are yet to be studies on the evaluation of the <i>UGT1A1</i> variant types detected by next-generation sequencing (NGS) and their effects on bilirubin levels in nonsyndromic obese children. <b><i>Methods:</i></b> Forty-five children with body mass index (BMI) >95 percentile (p) constituted the obesity group and fourteen healthy children with BMI <85p constituted the control group. Anthropometric, clinical features, and biochemical parameters were evaluated. Furthermore, the <i>UGT1A1</i> gene was sequenced by NGS. <b><i>Results:</i></b> The obese patients had lower total, direct, and indirect bilirubin levels (<i>p</i> = 0.422, 0.026, and 0.568, respectively). In addition, obese patients had more genetic variations in the <i>UGT1A1</i> gene compared with the control group (62.2% and 50%, respectively). We found that children with variations had higher total direct and indirect bilirubin levels compared with those without variation (<i>p</i> = 0.016, 0.028, and 0.015, respectively). Children diagnosed with obesity in the first two years of their life had fewer genetic variations and lower total bilirubin levels (<i>p</i> = 0.000 and 0.013, respectively). <b><i>Conclusions:</i></b> It is assumed that bilirubin can be protective against many chronic diseases. Although bilirubin levels are found to be lower in obese children compared with the control group, some variations in the <i>UGT1A1</i> gene may be supported by raising bilirubin. We suggest that high bilirubin levels caused by those <i>UGT1A1</i> variations may be protective against obesity and its many negative effects.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"275-280"},"PeriodicalIF":1.1,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11304751/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141446044","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Aberrant Super-Enhancer Landscape in Enzalutamide-Resistant Prostate Cancer Cells.","authors":"Chao Cai, Qinwei Liu, Haoran Shan, Chuanfan Zhong, Guidong Chen, Zhouda Cai, Yu Zheng, Jianming Lu, Jiaojiao Tang, Zhuoyuan Lin","doi":"10.1089/gtmb.2023.0280","DOIUrl":"10.1089/gtmb.2023.0280","url":null,"abstract":"<p><p><b><i>Background:</i></b> Castration-resistant prostate cancer (CRPC), which has developed resistance to next-generation antiandrogens, such as enzalutamide (Enz), is a lethal disease. Furthermore, transcriptional regulation by super enhancers (SEs) is crucial for the growth and spread of prostate cancer, as well as drug resistance. The functions of SEs, a significant class of noncoding DNA cis-regulatory elements, have been the subject of numerous recent studies in the field of cancer research. <b><i>Materials and Methods:</i></b> The goal of this research was to identify SEs associated with Enz resistance in C4-2B cells using chromatin immunoprecipitation sequencing and cleavage under targets and tagmentation (CUT&Tag). Using HOMER analysis to predict protein/gene-binding motifs, we identified master transcription factors (TFs) that may bind to SE sites. Using small interfering RNA, WST-1 assays, and qRT-PCR, we then confirmed the associations between TFs of SEs and Enz resistance. <b><i>Results:</i></b> A total of 999 SEs were screened from C4-2B EnzR cells in total. Incorporating analysis with RNA-seq data revealed 41 SEs to be strongly associated with the promotion of Enz resistance. In addition, we finally predicted that master TFs bind to SE-binding regions. Subsequently, we selected zinc finger protein 467 (ZFP467) and SMAD family member 3 to confirm the functional connections of master TFs with Enz resistance through SEs (ZNF467). <b><i>Conclusions:</i></b> In this study, SMAD3 and ZNF467 were found to be closely related to Enz-resistant CRPC. Our research uncovered a sizable group of SEs linked to Enz resistance in prostate cancer, dissected the mechanisms underlying SE Enz resistance, and shed light on potential clinical uses for SEs.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"243-256"},"PeriodicalIF":1.4,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140896212","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of Matrix Metalloproteinase-2 (MMP-2) and MMP-9 Promoter Variants, Their Serum Levels, and Activities with Aortic Valve Calcification (AVC) in a Population from Western Iran.","authors":"Reza Heidari Moghadam, Fatemeh Babajani, Afshin Karami, Daniel Elieh-Ali-Komi, Faeghe Hoseini, Nahid Salehi, Saeed Elahirad, Ehsan Mohammadi-Noori, Hossein Mohammadi, Amir Kiani","doi":"10.1089/gtmb.2023.0370","DOIUrl":"10.1089/gtmb.2023.0370","url":null,"abstract":"<p><p><b><i>Background:</i></b> Matrix metalloproteinase (MMP) enzyme gene polymorphisms MMP-2-1575G/A and MMP-9-1562C/T promoter polymorphism, their serum levels, and activity are associated with aortic valve calcification (AVC). <b><i>Materials and Methods:</i></b> The synergistic link between the risk of AVC and the alleles T and A of MMP-9 and MMP-2 was investigated, respectively. Ninety-two cases with AVC and 92 healthy individuals from the west of Iran were included, and MMP- 2-1575G/A and MMP-9-1562C/T promoter polymorphisms were detected using PCR-RFLP. The serum levels and activity of MMP-2 and -9 were assessed using ELISA and gelatin zymography methods, respectively. In addition, serum biochemical markers, including FBS, urea and creatinine, cholesterol, triglyceride, HDL, LDL, calcium, phosphorus, and blood pressure: systolic blood pressure and diastolic blood pressure were measured. <b><i>Results:</i></b> Heart valve calcification disease was associated with a comparatively higher frequency of the A allele of the MMP2-1575 variation (<i>p</i> = 0.002). In addition, the frequency of T allele of the MMP9-1562 variant was higher than the control group (<i>p</i> = 0.007). <b><i>Conclusion:</i></b> MMP-2 and MMP-9 serum levels and activities were observed to be considerably higher in the experimental group than in the control group (<i>p</i> < 0.001). Patients are more susceptible to cardiovascular disease than the control group due to elevated serum levels and activity of MMP-2 and MMP-9.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"223-232"},"PeriodicalIF":1.4,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140853078","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"TP53-Mutated Myelodysplastic Syndrome: A Diagnostic Approach in Different Clinical Settings.","authors":"Hatem Kaseb, Genevieve Crane, Jane Gibson","doi":"10.1089/gtmb.2024.0131","DOIUrl":"10.1089/gtmb.2024.0131","url":null,"abstract":"","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"219-222"},"PeriodicalIF":1.4,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140853676","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Novel <i>WFS1</i> Variants in Two Moroccan Families with Wolfram Syndrome.","authors":"Ahmed Bouhouche, Sara Sefiani, Hicham Charoute, Tibar Houyam, Naima Bouslam, Fatima-Zahra El Yousfi, Wadi Bnouhana, Ali Benomar, Fatima-Zahra Ouadghiri, Wafaa Regragui","doi":"10.1089/gtmb.2023.0550","DOIUrl":"10.1089/gtmb.2023.0550","url":null,"abstract":"<p><p><b><i>Background:</i></b> Wolfram syndrome (WFS) is an autosomal recessive disorder that often leads to diabetes, optic atrophy, and sensorineural hearing loss. The aim of this study was to determine the clinical characteristics and the genetic cause of the first two Moroccan families presenting with WFS. <b><i>Methods:</i></b> The clinical features of five members of two WFS families were evaluated. Whole-exome sequencing was conducted to explore the underlying genetic cause in the affected patients. <b><i>Results:</i></b> Two homozygous variants in the <i>WFS1</i> gene were identified, each in one of the two families studied: a missense c.1329C>G variant (p.Ser443Arg) and a nonsense mutation c.1113G>A (p.Trp371Ter). These variants affected conserved amino acid residues, segregated well in the two families, and are absent from genetic databases and in controls of Moroccan origin. Bioinformatics analysis classified the two variants as pathogenic by <i>in silico</i> tools and molecular modeling. <b><i>Conclusion:</i></b> Our study identified for the first time two variants in Moroccan patients with WFS that extends the mutational spectrum associated with the disease.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"257-262"},"PeriodicalIF":1.4,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140896353","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"<i>MTHFR</i> 677C>T and 1298A>C Variants in Mothers of Infants with Down Syndrome from Western Mexico.","authors":"Yaneris Maibeth Romero-Bolaño, Lucina Bobadilla-Morales, Alfredo Corona-Rivera, Idalid Cuero-Quezada, Jennifer Santana-Hernández, Christian Peña-Padilla, Alejandro Brukman-Jiménez, Mireya Orozco-Vela, Natalia Navia-Espinoza, Jorge Román Corona-Rivera","doi":"10.1089/gtmb.2023.0690","DOIUrl":"10.1089/gtmb.2023.0690","url":null,"abstract":"<p><p><b><i>Background:</i></b> Several studies in mothers of infants with Down syndrome (DS) (MoIDS) have suggested that the 677C>T and 1298A>C variants of the 5,10-methylentetrahydrofolate reductase (<i>MTHFR</i>) gene can increase the risk of having a child with DS. <b><i>Aim:</i></b> This study aimed to evaluate the <i>MTHFR</i> 677C>T and 1298A>C variants as potential maternal risk factors for DS. <b><i>Materials and Methods:</i></b> Using TaqMan allelic discrimination assay, we genotyped 95 MoIDS and 164 control mothers from western Mexico. Data were analyzed using logistic regression analysis. <b><i>Results:</i></b> We found that MoIDS had a significantly higher risk for the <i>MTHFR</i> 677TT genotype (adjusted odds ratio [aOR] = 3.4, 95% confidence interval [95% CI]: 1.1-10.6), and the <i>MTHFR</i> 677T allele (aOR = 1.5, 95% CI: 1.0-2.3), particularly in MoIDS <35 years of age. <b><i>Conclusions:</i></b> Our findings indicate that the presence of the 677TT genotype and 677T allele of the <i>MTHFR</i> 677C>T variant are maternal risk factors for DS in Mexican MoIDS.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"263-266"},"PeriodicalIF":1.4,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140876250","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The 3'UTR Polymorphisms in the <i>NLRP3</i> Gene Associated with the Risk of COPD and Their Putative Effects on the microRNA Mechanism.","authors":"Huiyan Wu, Chuting Huang, Yanling Zhang, Xin Yang, Liang Peng, Weipeng Li","doi":"10.1089/gtmb.2023.0229","DOIUrl":"10.1089/gtmb.2023.0229","url":null,"abstract":"<p><p><b><i>Aims:</i></b> Evaluating the association between a single nucleotide polymorphism in the 3' untranslated region (3'UTR) of the miRNA binding site of the <i>NLRP3</i> gene and the occurrence and development of chronic obstructive pulmonary disease (COPD) and providing information to aid in the early detection and treatment of COPD. <b><i>Materials and Methods:</i></b> The regulatory single nuclear polymorphisms (SNPs) located in <i>NLRP3</i> 3'UTR were searched by using the dbSNP database and miRNA binding site prediction database. Meanwhile, samples from COPD patients and healthy controls in the same period were used for verification. The clinical baseline information of all subjects was collected, and the transcription level and protein expression level of <i>NLRP3</i> and the expression level of inflammatory factors downstream of <i>NLRP3</i> were detected. The effects of SNPs' single nucleotide changes on the transcription and expression of inflammatory factors were analyzed. <b><i>Results:</i></b> The study included 418 participants (249 in the COPD group and 169 in the control group). <i>NLRP3</i> SNPs with miRNA binding sites include rs10754558 (G > C), rs1664774076 (ATAT > del), and rs1664775106 (C > G). Furthermore, two genotypes, GCG and GCA, were discovered to have a linkage mutation at 3'UTR 459-461. COPD susceptibility is tightly associated with the expression of the rs1664774076 del/del genotype, and the risk of COPD increased by 2.770 times (<i>p</i> = 0.003). Type 459-461 GCA was substantially related to the likelihood of developing COPD at various stages (<i>p</i> < 0.05). Except for rs10754558, all homozygous mutants increased <i>NLRP3</i> mRNA and protein levels. <i>NLRP3</i> had the greatest area under the receiver operating characteristic (ROC) curve for predicting the development and diagnosis of COPD when compared with its downstream inflammatory variables (AUC = 0.9291). <b><i>Conclusions:</i></b> The <i>NLRP3</i> rs1664774076 del/del genotype is a COPD susceptibility gene, and the GCA genotype at 459-461 can be used as an early predictor of COPD exacerbation. The <i>NLRP3</i> 3'UTR polymorphism may alter the loss of miRNA binding sites, leading to an increase in <i>NLRP3</i> expression. In the development of COPD, <i>NLRP3</i> has a better diagnostic value than traditional inflammatory factors. The Clinical Trials Registration number Z: protocol KY01-2020-11-06.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"233-242"},"PeriodicalIF":1.4,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140957082","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Carrier Screening and Diagnosis for Spinal Muscular Atrophy Using Droplet Digital PCR Versus MLPA: Analytical Validation and Early Test Outcome.","authors":"Dolat Singh Shekhawat, Siyaram Didel, Shilpi Gupta Dixit, Pratibha Singh, Kuldeep Singh","doi":"10.1089/gtmb.2023.0073","DOIUrl":"10.1089/gtmb.2023.0073","url":null,"abstract":"<p><p><b><i>Background:</i></b> Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular life-threatening disorder. Owing to high carrier frequency, population-wide SMA screening to quantify the copy number of <i>SMN</i> gene is recommended by American College of Medical Genetics and Genomics. An accurate, reliable, short runaround time and cost-effective method may be helpful in mass population screening for SMA. <b><i>Methods:</i></b> Multiplex ligation-dependent probe amplification (MLPA) is a gold standard to estimate the copy number variation (CNV) for <i>SMN1</i> and <i>SMN2</i> genes. In this study, we validated droplet digital polymerase chain reaction (ddPCR) for the determination of CNV for both <i>SMN1</i> and <i>SMN2</i> exon 7 for a diagnostic purpose. In total, 66 clinical samples were tested using ddPCR, and results were compared with the MLPA as a reference test. <b><i>Results:</i></b> For all samples, CNV for <i>SMN1</i> and <i>SMN2</i> exon 7 was consentaneous between ddPCR and MLPA test results (κ = 1.000, <i>p</i> < 0.0001). In addition, ddPCR also showed a significant acceptable degree of test repeatability, coefficient of variation < 4%. <b><i>Conclusion:</i></b> ddPCR is expected to be utilitarian for CNV detection for carrier screening and diagnosis of SMA. ddPCR test results for CNV detection for <i>SMN1</i>/<i>SMN2</i> exon 7 are concordant with the gold standard. ddPCR is a more cost-effective and time-saving diagnostic test for SMA than MLPA. Furthermore, it can be used for population-wide carrier screening for SMA.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"207-212"},"PeriodicalIF":1.4,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140293343","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}