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A novel intron variant in the prolactin gene associated with eggshell weight and thickness with putative alternative splicing patterns in chickens 催乳素基因中的一个新型内含子变异与鸡的蛋壳重量和厚度有关,并具有假定的替代剪接模式
IF 1.5 4区 生物学
Journal of Genetics Pub Date : 2024-09-14 DOI: 10.1007/s12041-024-01482-w
Dhafer A. Ali, Nihad Abdul-Lateef Ali, Thamer R. S. Aljubouri, Mohammed Baqur S. Al-Shuhaib
{"title":"A novel intron variant in the prolactin gene associated with eggshell weight and thickness with putative alternative splicing patterns in chickens","authors":"Dhafer A. Ali, Nihad Abdul-Lateef Ali, Thamer R. S. Aljubouri, Mohammed Baqur S. Al-Shuhaib","doi":"10.1007/s12041-024-01482-w","DOIUrl":"https://doi.org/10.1007/s12041-024-01482-w","url":null,"abstract":"<p>Raising Iraqi indigenous chickens (IIC) is restricted by their thin and low eggshell weights. Due to the importance of the prolactin (<i>Prl</i>) gene in regulating a wide range of egg production traits, this study assessed the potential genetic polymorphisms associated with <i>Prl</i> that may influence these traits. The polymorphism was examined in three <i>Prl</i> loci of the IIC breed (<i>n</i> = 120) in comparison with the standard Hyline breed (<i>n</i> = 120). The polymorphism of both breeds was associated with eggshell weight and thickness indices for 16 weeks, starting from the 44th to the 59th week. After genotyping three loci within <i>Prl</i> by polymerase chain reaction-single-stranded conformation polymorphism (SSCP) method, only one novel SNP was identified in intron 4, namely 129G &gt; A. The identified intron SNP exerted a significant association with both eggshell thickness and weight indices throughout the investigation period. Birds with GG genotype exhibited higher indices of eggshell thickness and weight than those with the GA and AA genotypes, respectively. The employed <i>in silico</i> tools predicted a remarkable ability for the identified SNP to alter the mRNA splicing pattern, which might be related to altered prolactin activity in birds having an alternative allele A. This study is the first to suggest the significance of this novel intron SNP in assessing eggshell traits in chickens.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"86 1","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142260527","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}
引用次数: 0
Assessment of the contribution of VDR and VDBP/GC genes in the pathogenesis of celiac disease 评估 VDR 和 VDBP/GC 基因在乳糜泻发病机制中的作用
IF 1.5 4区 生物学
Journal of Genetics Pub Date : 2024-09-13 DOI: 10.1007/s12041-024-01480-y
Pratibha Banerjee, Harinder Singh, Priyanka Tiwari, Ajit Sood, Vandana Midha, Gursewak Singh, B K Thelma, Sabyasachi Senapati
{"title":"Assessment of the contribution of VDR and VDBP/GC genes in the pathogenesis of celiac disease","authors":"Pratibha Banerjee, Harinder Singh, Priyanka Tiwari, Ajit Sood, Vandana Midha, Gursewak Singh, B K Thelma, Sabyasachi Senapati","doi":"10.1007/s12041-024-01480-y","DOIUrl":"https://doi.org/10.1007/s12041-024-01480-y","url":null,"abstract":"<p>Vitamin-D deficiency (VDD) is a global health concern. It is known to play a critical role in the immunomodulation, and thus, its metabolism could be investigated to unravel its contribution in common immune-mediated diseases, e.g., celiac disease (CD). Genotyping of SNPs from vitamin D receptor (<i>VDR</i>) gene, such as rs11568820 (Cdx2) and rs2228570 (Fok1) using allele specific multiplex polymerase chain reaction (ASM-PCR) and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) respectively; and rs7041 and rs4588 of vitamin D binding protein (<i>VDBP/GC</i>) using PCR-RFLP were done in 969 subjects including CD cases (<i>n</i>=506) and controls (<i>n</i>=463). Genotype data for 86 CD and 712 controls for rs11568820 and rs7041 were retrieved from already published Immunochip genotype data. Serum concentration of vitamin-D and vitamin D binding protein (VDBP) were measured for 283 participants (98 CD and 185 controls). rs4588-A allele was identified as protective allele [OR=0.6(0.4–0.7), <i>P</i>&lt;0.0001]. Significantly reduced serum level of vitamin-D was observed in CD patients [median=16.25 ng/mL, IQR (8.94–23.60)] than in controls [median=19.94 ng/mL, IQR (13.91–28.46)] with <i>P</i>=0.001. Notably, rs7041-GG, rs4588-CC, and 1F (GC) haplotype of <i>VDBP</i>/<i>GC</i> showed significant association (<i>P</i>&lt;0.05) with reduced serum vitamin D level. We did not find any significant association with VDBP serum concentration. Significant vitamin D and VDBP level correlations were observed in controls (spearman r = 0.3, <i>P</i>=0.005). The present study highlights the significance of reduced vitamin-D serum level in CD. 1F variant of <i>VDBP</i> and lower vitamin-D levels contribute to CD. No correlation between vitamin-D and VDBP levels suggests that vitamin-D supplementation may improve vitamin-D levels but might not affect VDBP levels in CD subjects.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"42 1","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142196522","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}
引用次数: 0
A novel missense variant in PNLDC1 associated with nonobstructive azoospermia 与非梗阻性无精子症相关的 PNLDC1 新型错义变体
IF 1.5 4区 生物学
Journal of Genetics Pub Date : 2024-08-20 DOI: 10.1007/s12041-024-01478-6
Mouness Rahimian, Masomeh Askari, Najmeh Salehi, Mojtaba Jaafarinia, Mohsen Forouzanfar, Navid Almadani, Andrea Riccio, Mehdi Totonchi
{"title":"A novel missense variant in PNLDC1 associated with nonobstructive azoospermia","authors":"Mouness Rahimian, Masomeh Askari, Najmeh Salehi, Mojtaba Jaafarinia, Mohsen Forouzanfar, Navid Almadani, Andrea Riccio, Mehdi Totonchi","doi":"10.1007/s12041-024-01478-6","DOIUrl":"https://doi.org/10.1007/s12041-024-01478-6","url":null,"abstract":"<p>The most severe type of male infertility is nonobstructive azoospermia (NOA), where there is no sperm in the ejaculate due to failure of spermatogenesis. The predictable frequency of NOA in the general population is one in 100 men. Genetic studies have recognized dozens of NOA genes. Most NOA aetiologies remain idiopathic. Monogenic mutations can be a reason for a part of idiopathic NOA cases. To address this, we studied the pedigree of a consanguineous family with three NOAs by a family-based exome sequencing. Our goal was to pinpoint the genetic variants responsible for idiopathic NOA to aid future clinical genetic diagnostics and treatment strategies. Bioinformatics analysis followed by Sanger sequencing revealed that NOA patients were homozygous for a rare novel missense variant in <i>PNLDC1</i> (NM_173516:exon9:c.710G&gt;A;p.Gly237Asp). <i>In silico,</i> single-cell RNA sequencing data analysis and protein modelling demonstrated that PNLDC1, Gly237Asp resided in the conserved region of the CAF1 domain which could lead to local instability in the structure and alteration of protein phosphorylation site. We conclude that the novel missense <i>PNLDC1</i> variant may affect meiosis and spermatogenesis, leading to NOA and the genetic cause of this idiopathic NOA family. Our result helps genetic counselling for idiopathic NOA cases and provides the occasion for more efficient diagnosis in the clinical setting.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"25 1","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142196505","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}
引用次数: 0
miR-7160 inhibits gastric cancer cell proliferation and metastasis by silencing SIX1 miR-7160 通过沉默 SIX1 抑制胃癌细胞增殖和转移
IF 1.5 4区 生物学
Journal of Genetics Pub Date : 2024-08-19 DOI: 10.1007/s12041-024-01479-5
Meng Meng, Guoxin Guan, Xingming Liu, Wei Sun, Xinye Cui, Saiya Fu, Fuwen Luo
{"title":"miR-7160 inhibits gastric cancer cell proliferation and metastasis by silencing SIX1","authors":"Meng Meng, Guoxin Guan, Xingming Liu, Wei Sun, Xinye Cui, Saiya Fu, Fuwen Luo","doi":"10.1007/s12041-024-01479-5","DOIUrl":"https://doi.org/10.1007/s12041-024-01479-5","url":null,"abstract":"<p>Upregulation of homeoprotein <i>SIX1</i> in gastric cancer (GC) is related to tumour proliferation and invasion. MicroRNA-7160 (miR-7160) is a homeoprotein <i>SIX1</i>-targeting miRNA that downregulates miR-7160, leading to cancer development. Total gastric cancer samples were collected from six patients, and relative expression levels of <i>SIX1</i> mRNA and miRNAs were analysed by qRT-PCR. To evaluate the regulation of <i>SIX1</i> by miR-7160, pGL3-SIX1-mut, pGL3-SIX1, and miR-7160 mimics transfected into cells using lipofectamine 2000. After transfection, proliferation and apoptosis in cultured cells were assessed using the nuclear TUNEL staining and CCK8 reagent, respectively. We demonstrated that the downregulation of miR-7160 in human gastric cancer cells is related to the upregulation of <i>SIX1</i> mRNA. In gastric cancer cell lines, miR-7160 overexpression could downregulate the expression and inhibit cancer cell proliferation and growth <i>in vitro</i>. However, overexpression of miR-7160 did not increase gastric cancer cell apoptosis. <i>In vitro</i> downregulation of <i>SIX1</i> decreased vimentin, N-cadherin, and other EMT-related gene expression and increased E-cadherin expression. In brief, miR-7160, by targeting <i>SIX1</i>, inhibits gastric cancer proliferation and cell growth <i>in vitro</i>, which provides an idea for introducing a new treatment option for gastric cancer.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"42 1","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142196506","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}
引用次数: 0
COQ7 splice site variant causing a spastic paraparesis phenotype in siblings COQ7 剪接位点变异导致同胞出现痉挛性截瘫表型
IF 1.5 4区 生物学
Journal of Genetics Pub Date : 2024-07-10 DOI: 10.1007/s12041-024-01477-7
Haseena Sait, Manmohan Pandey, Shubha R. Phadke
{"title":"COQ7 splice site variant causing a spastic paraparesis phenotype in siblings","authors":"Haseena Sait, Manmohan Pandey, Shubha R. Phadke","doi":"10.1007/s12041-024-01477-7","DOIUrl":"https://doi.org/10.1007/s12041-024-01477-7","url":null,"abstract":"<p>The <i>COQ7</i> gene is one of the causative genes for primary COQ10 deficiency-related disorders. OMIM-related phenotypes include severe encephalo-myo-nephrocardiopathy and distal hereditary motor neuronopathy. In the present study, we performed the exome sequencing analysis on the proband of a single family with two siblings affected by hereditary spastic paraparesis (HSP). Segregation analysis was conducted on the affected siblings and parents using the Sanger sequencing. <i>In silico</i> secondary and tertiary pre-mRNA structure analysis and protein modelling were carried out. Exome sequencing identified a homozygous splice site variant in the <i>COQ7</i> gene (NM_016138.5: c.367+5G&gt;A) in the proband. Sanger sequencing confirmed the homozygous status in the affected sibling and heterozygous status in both parents, consistent with autosomal recessive inheritance. <i>In silico</i> secondary and tertiary premRNA structure analysis and protein modelling predicted the deleterious nature of the variant. This case highlights a distinct intermediate phenotype of <i>COQ7</i> related disorders comprising early-onset spastic paraparesis due to a novel splice site variant in the <i>COQ7</i> gene. This expands the spectrum of clinical manifestations associated with <i>COQ7</i> deficiency and underscores the importance of considering <i>COQ7</i> gene mutations in the differential diagnosis of HSP.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"153 1","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141587456","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}
引用次数: 0
Expanding the genetic and phenotypic spectrum of Baker–Gordon syndrome: a new de novo SYT1 variant 扩展贝克-戈登综合征的遗传和表型谱:一个新的SYT1基因变异体
IF 1.5 4区 生物学
Journal of Genetics Pub Date : 2024-07-05 DOI: 10.1007/s12041-024-01476-8
Francisco Javier Cotrina-Vinagre, María Elena Rodríguez-García, Lucía Del Pozo-Filíu, Pilar Quijada-Fraile, Francisco Martínez-Azorín
{"title":"Expanding the genetic and phenotypic spectrum of Baker–Gordon syndrome: a new de novo SYT1 variant","authors":"Francisco Javier Cotrina-Vinagre, María Elena Rodríguez-García, Lucía Del Pozo-Filíu, Pilar Quijada-Fraile, Francisco Martínez-Azorín","doi":"10.1007/s12041-024-01476-8","DOIUrl":"https://doi.org/10.1007/s12041-024-01476-8","url":null,"abstract":"<p>We report the case of a Spanish pediatric patient with developmental delay, hypotonia, feeding difficulties, visual problems, and hyperkinetic movements. Whole-exome sequencing uncovered a new heterozygous <i>de novo</i> Synaptotagmin 1 (<i>SYT1</i>) missense variant, NM_005639.3:c.930T&gt;A (p.Asp310Glu), in a female proband. This gene encodes the synaptotagmin-1 (SYT1) protein, which is a component of a protein complex involved in the fusion of synaptic vesicles with the presynaptic membrane. Pathogenic <i>SYT1</i> variants have been associated with Baker–Gordon syndrome (BAGOS), an autosomal dominant neurodevelopmental disorder. Although up to 30 cases have been identified worldwide, to the best of our knowledge, this is the first patient described with mitochondrial respiratory chain deficiencies and rod–cone dysfunction. In conclusion, our data expand both the genetic and phenotypic spectrum associated with <i>SYT1</i> variants.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"4 1","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-07-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141546691","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}
引用次数: 0
Detection of caudal type homeobox 1 (CDX1) gene methylated DNA, as a stool-based diagnostic biomarker in colorectal cancer 检测尾状同源染色体 1 (CDX1) 基因甲基化 DNA,作为基于粪便的结直肠癌诊断生物标志物
IF 1.5 4区 生物学
Journal of Genetics Pub Date : 2024-06-22 DOI: 10.1007/s12041-024-01473-x
Sarina Almasi, Lida Haghnazari, Seyedeh Ozra Hosseini, Nayebali Rezvani
{"title":"Detection of caudal type homeobox 1 (CDX1) gene methylated DNA, as a stool-based diagnostic biomarker in colorectal cancer","authors":"Sarina Almasi, Lida Haghnazari, Seyedeh Ozra Hosseini, Nayebali Rezvani","doi":"10.1007/s12041-024-01473-x","DOIUrl":"https://doi.org/10.1007/s12041-024-01473-x","url":null,"abstract":"<p>Colorectal cancer (CRC) is known to develop due to the accumulation of both genetic and epigenetic alterations, resulting in the conversion of intestinal epithelial cells to malignant adenocarcinoma cells. Caudal type homeobox 1 (<i>CDX1</i>) gene is a homeobox transcription factor and a selective tumour suppressor gene that is an important factor for the development of intestinal cells. This gene plays a role in the differentiation of intestinal epithelial cells, and its expression decreases in a number of cell lines derived from CRC, which suggests that a lack of <i>CDX1</i> expression is a risk factor for the development of colorectal carcinoma. Therefore, the methylated DNA amounts of <i>CDX1</i> gene in stool samples were investigated as a noninvasive method for the detection of CRC. In the present study, the methylation of <i>CDX1</i> gene promoter region was assessed in stool samples of 50 CRC patients and 50 healthy individuals by MethyLight PCR using two primers and a Taq Man probe, which was completely specifically designed for fully methylated DNA of the gene promoter region. The percentage of methylated reference (PMR) of the studied gene in all samples was calculated similarly to previous studies. Statistical analysis was performed using SPSS 16. The PMR medians were 3.25 (95% CI: 0.1–100) and 0.1 (95% CI: 0.07–1) in the stool samples of CRC patients and healthy individuals, respectively. The results showed a significant difference in <i>CDX1</i> gene PMR between stool samples of CRC patients and controls (<i>P</i>-value &lt;0.001). According to the results of this study, it can be argued that measurement of <i>CDX1</i> gene DNA in stool samples using the MethyLight PCR has acceptable sensitivity and specificity, and is adequately potential to be used as a noninvasive complementary method for the diagnosis of CRC, along with colonoscopy as the gold standard to this end. This study is the first report on <i>CDX1</i> methylation in stool samples of CRC patients. Therefore, further research should be carried out with a larger sample size to evaluate its efficacy as a diagnostic biomarker in clinical laboratories.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"31 1","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141511349","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}
引用次数: 0
Association of polymorphisms of HSD11B1 and ACE genes with trachoma disease HSD11B1 和 ACE 基因的多态性与沙眼疾病的关系
IF 1.5 4区 生物学
Journal of Genetics Pub Date : 2024-06-18 DOI: 10.1007/s12041-024-01474-w
LAURA L. VALDEZ-VELAZQUEZ, HÉCTOR OCHOA-DÍAZ-LÓPEZ, IVÁN DELGADO-ENCISO, HÉCTOR RANGEL-VILLALOBOS, IRÁM P. RODRÍGUEZ-SÁNCHEZ, ROSARIO GARCÍA-MIRANDA, DOIREYNER DANIEL VELÁZQUEZ-RAMÍREZ, NANCY A. REYES-MÉNDEZ, CARLOS EDUARDO BARAJAS-SAUCEDO, MARGARITA L. MARTÍNEZ-FIERRO
{"title":"Association of polymorphisms of HSD11B1 and ACE genes with trachoma disease","authors":"LAURA L. VALDEZ-VELAZQUEZ, HÉCTOR OCHOA-DÍAZ-LÓPEZ, IVÁN DELGADO-ENCISO, HÉCTOR RANGEL-VILLALOBOS, IRÁM P. RODRÍGUEZ-SÁNCHEZ, ROSARIO GARCÍA-MIRANDA, DOIREYNER DANIEL VELÁZQUEZ-RAMÍREZ, NANCY A. REYES-MÉNDEZ, CARLOS EDUARDO BARAJAS-SAUCEDO, MARGARITA L. MARTÍNEZ-FIERRO","doi":"10.1007/s12041-024-01474-w","DOIUrl":"https://doi.org/10.1007/s12041-024-01474-w","url":null,"abstract":"<p>Trachoma, caused by <i>Chlamydia trachomatis</i>, is the most common infectious blindness in the world and is present in indigenous Mayan from Chiapas (Mexico). Inflammatory genes are activated when suffering from trachoma, thus some polymorphisms could increase the susceptibility to develop irreversible blindness. This study aimed to evaluate the genetic risk of developing late-stage trachoma in Mayan ethnic groups. In a case–control study (<i>n</i> = 51 vs <i>n</i> = 102, respectively), the following single-nucleotide polymorphisms (SNPs) in genes related to inflammation were analysed: <i>HSD11B1</i> (rs11807619), <i>HSD11B1</i> (rs932335), ABCG2 (rs2231142), SLCO1B1 (rs4149056), IL-10 (rs1800890), TNF (rs1800629), MMP2 (rs243865) and <i>ACE</i>. Three SNPs were associated with late-stage trachoma risk: (i) the T allele of rs11807619, (ii) the C allele of rs932335, which are linked to the <i>HSD11B1</i> gene (OR = 22.5–27.3), particularly in men when adjusts for gender (OR = 16–16.7); and (iii) D allele of rs4340 in the <i>ACE</i> gene (OR = 5.2–5.3). In fact, significant linkage disequilibrium demonstrated association between <i>ACE</i> gene and <i>HSD11B1</i> SNPs (r = 0.17–0.179; <i>P</i> = 0.0048–0.0073). Two SNPs <i>HSD11B1</i> gene (<i>P</i> = 0.013 vs 0.0039) and <i>HSD11B1</i>–<i>ACE</i> haplotypes showed association with late-stage trachoma in Mayan ethnic groups.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"42 1","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141530271","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}
引用次数: 0
Special clinical entity with 15q26 deletion: a novel case report 15q26 缺失的特殊临床症状:一份新病例报告
IF 1.5 4区 生物学
Journal of Genetics Pub Date : 2024-05-28 DOI: 10.1007/s12041-024-01468-8
Wei-Liang Liu, Fang Li, Lu Liu, Rong Ai
{"title":"Special clinical entity with 15q26 deletion: a novel case report","authors":"Wei-Liang Liu, Fang Li, Lu Liu, Rong Ai","doi":"10.1007/s12041-024-01468-8","DOIUrl":"https://doi.org/10.1007/s12041-024-01468-8","url":null,"abstract":"<p>In the past, there were no easily distinct and recognizable features as a guide for precise clinical and genetic diagnosis of cases with chromosome microdeletions involving 15q26 including <i>CHD2</i>. The present study analysed the clinical data and collected venous blood samples from a pediatric patient and his healthy family members for DNA testing. The whole-exome sequencing was performed by the next-generation sequencing (NGS). Chromosomal copy-number variations were tested based on NGS. We present a review of all cases with chromosome microdeletions affecting <i>CHD2</i>. A novel <i>de novo</i> 5.82-Mb deletion at 15q25.3-15q26.1 including <i>CHD2</i> was identified in our patient who is an 11.6-year-old boy. We first found surprising efficacy of lamotrigine in controlling intractable drop seizures in the individual. These cases have development delay, behavioural problems, epilepsy, variable multiple anomalies, etc. Phenotypes of individuals with deletions involving 15q26 including <i>CHD2</i> are highly variable with regard to facial features and multiple developmental anomalies. We first found the special clinical entity of development delay, behavioural problems, epilepsy, variable skeletal and muscular anomalies, abnormalities of variable multiple systems and characteristic craniofacial phenotypes in patients with chromosome microdeletions involving <i>CHD2</i>. The larger deletions involving 15q26 including <i>CHD2</i> tend to cause the classical phenotype. A distinctive craniofacial appearance of the classical phenotype is midface hypoplasia and perifacial protrusion.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"21 1","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141166152","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}
引用次数: 0
Extraction of genomic DNA for sequencing from snail Helix lucorum 从蜗牛 Helix lucorum 提取用于测序的基因组 DNA
IF 1.5 4区 生物学
Journal of Genetics Pub Date : 2024-05-18 DOI: 10.1007/s12041-024-01472-y
Dmitry Panteleev, Anastasia Sadova, Galina Pavlova
{"title":"Extraction of genomic DNA for sequencing from snail Helix lucorum","authors":"Dmitry Panteleev, Anastasia Sadova, Galina Pavlova","doi":"10.1007/s12041-024-01472-y","DOIUrl":"https://doi.org/10.1007/s12041-024-01472-y","url":null,"abstract":"<p>Genomic studies make it possible to breakthrough in many fields such as biochemistry, physiology, phylogenetics, etc., though they are unworkable without sequences of genomic DNA of an organism. The terrestrial mollusks’ genomes would benefit gastropod biology investigations, that are unavailable so far due to problems in DNA integrity and quality after the isolation procedures. Here we describe a fast and handy protocol for genomic DNA extraction from the tissues of <i>Helix lucorum,</i> which allows to yield high-quality samples applicable for downstream analysis such as high-throughput DNA sequencing. Troubleshooting revealed the nuclease activity of snail tissue lysate, which may be avoided by heating the lysate and decreasing the incubation time.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"57 1","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-05-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141061784","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}
引用次数: 0
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