Journal of Genetics最新文献_第3页

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":"Trachoma, caused by Chlamydia trachomatis, 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 (n = 51 vs n = 102, respectively), the following single-nucleotide polymorphisms (SNPs) in genes related to inflammation were analysed: HSD11B1 (rs11807619), HSD11B1 (rs932335), ABCG2 (rs2231142), SLCO1B1 (rs4149056), IL-10 (rs1800890), TNF (rs1800629), MMP2 (rs243865) and ACE. 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 HSD11B1 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 ACE gene (OR = 5.2–5.3). In fact, significant linkage disequilibrium demonstrated association between ACE gene and HSD11B1 SNPs (r = 0.17–0.179; P = 0.0048–0.0073). Two SNPs HSD11B1 gene (P = 0.013 vs 0.0039) and HSD11B1–ACE haplotypes showed association with late-stage trachoma in Mayan ethnic groups.","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":"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 CHD2. 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 CHD2. A novel de novo 5.82-Mb deletion at 15q25.3-15q26.1 including CHD2 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 CHD2 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 CHD2. The larger deletions involving 15q26 including CHD2 tend to cause the classical phenotype. A distinctive craniofacial appearance of the classical phenotype is midface hypoplasia and perifacial protrusion.","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

引用次数: 0

Mitogenome features and phylogenetic analysis of red algae, Grateloupia cornea (Rhodophyta, Halymeniales) 红藻角叉菜（红藻门，Halymeniales）的有丝分裂基因组特征和系统发育分析

IF 1.5 4区生物学

Journal of Genetics Pub Date : 2024-05-18 DOI: 10.1007/s12041-024-01471-z

Maheshkumar Prakash Patil, Young-Ryun Kim, Shinya Nakashita, Jong-Oh Kim, Kyunghoi Kim

{"title":"Mitogenome features and phylogenetic analysis of red algae, Grateloupia cornea (Rhodophyta, Halymeniales)","authors":"Maheshkumar Prakash Patil, Young-Ryun Kim, Shinya Nakashita, Jong-Oh Kim, Kyunghoi Kim","doi":"10.1007/s12041-024-01471-z","DOIUrl":"https://doi.org/10.1007/s12041-024-01471-z","url":null,"abstract":"The mitogenome is an important tool for taxonomic and evolutionary investigation. Here, a few complete mitogenomes of red algae have been reported. We have reported the complete mitogenome sequences of Grateloupia cornea Okamura, 1913 (Rhodophyta, Halymeniales). The genome is 30,595 bp in circumference, and has a strongly biased [AT] = 66.9%. Like most other Grateloupia species, it has a group II intron in the cox1 gene. Maximum likelihood and maximum parsimony analyses showed that G. cornea is more closely related to G. asiatica. This shows that the group II intron in the cox1 ORF present in most species of Grateloupia was present in their common ancestor, and uniquely lost in G. asiatica. The seven Grateloupia species with known mitogenome sequences remain monophyletic, with the genus Polyopes as sister taxon. The complete mitochondrial genome data will be valuable for future research on comparative mitochondrial genome analysis, an extensive understanding of gene content and organization, evolution of the cox1 intron in Rhodophyta as well as phylogenetic analysis.","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"29 1","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-05-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141061738","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

The first complete mitochondrial genome of the critically endangered Malaysian giant turtle, Orlitia borneensis (Testudines: Geoemydidae) 极度濒危的马来西亚巨龟 Orlitia borneensis（鳖科：Geoemydidae）的首个完整线粒体基因组

IF 1.5 4区生物学

Journal of Genetics Pub Date : 2024-05-03 DOI: 10.1007/s12041-024-01469-7

Mohd Hairul Mohd Salleh, Yuzine Esa

引用次数: 0

Genetic characterization and linkage analysis of spotted leaf 6, liguleless and lax panicle traits in mutant rice 突变水稻斑叶 6、无叶舌和松散圆锥花序性状的遗传特征和连锁分析

IF 1.5 4区生物学

Journal of Genetics Pub Date : 2024-04-17 DOI: 10.1007/s12041-024-01466-w

Mohammad Nurul Matin, Kyung Eun Lee, Sang Gu Kang

{"title":"Genetic characterization and linkage analysis of spotted leaf 6, liguleless and lax panicle traits in mutant rice","authors":"Mohammad Nurul Matin, Kyung Eun Lee, Sang Gu Kang","doi":"10.1007/s12041-024-01466-w","DOIUrl":"https://doi.org/10.1007/s12041-024-01466-w","url":null,"abstract":"Phenotypic mutants are valuable resources for elucidating the function of genes responsible for their expression. This study examined mutant rice strains expressing three traits: spotted leaf 6 (spl6), lax panicle (lax), and liguleless (lg). In the mutant, the spl6 phenotype was a genetically programmed lesion-mimicking mutation (LMM) that displayed spontaneously scattered spots across the leaf surface. In the lg trait, the plant lacked a collar region, and there were no auricles and ligules at the junction of the leaf blade and leaf sheath. The lax panicle trait manifested as sparely arranged spikelets resulting from the terminal spikelet with no lateral spikelets, which caused a drastic reduction of the total seed number in the mutant. All three mutant genes were genetically recessive and had nuclear gene regulation. The dihybrid segregation of the lg gene was classified independently according to the Mendelian 9:3:3:1 dihybrid segregation ratio in the F2 generation, suggesting that the lg gene is not linked to the same chromosome as the lax and spl6 genes. On the other hand, spl6 and lax were not assorted independently, indicating that they are closely linked on chromosome 1 in rice. Additional linkage analysis from the recombination of spl6 and lax genes reconfirmed that the two genes were ~9.4 cM away from each other. The individual single-gene mutant plant from one plant with a three-gene mutation (spl6, lax, and lg) was isolated and characterized, which will be a crucial resource for the gene cloning and molecular characterization of these genes.","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"12 1","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140608763","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

Foetal haemoglobin elevation, unfavourable prognosis, and protective role of genetic variants HBG2 rs7482144, HBS1L-MYB rs9399137 and BCL11A rs4671393 in children with ALL 胎儿血红蛋白升高、预后不良以及遗传变异 HBG2 rs7482144、HBS1L-MYB rs9399137 和 BCL11A rs4671393 在 ALL 儿童中的保护作用

IF 1.5 4区生物学

Journal of Genetics Pub Date : 2024-04-17 DOI: 10.1007/s12041-024-01470-0

FRANCISCO JAVIER BORRAYO-LÓPEZ, BERTHA IBARRA-CORTÉS, FRANCISCO JAVIER PEREA-DÍAZ, ABRIL IXCHEL MUÑOZ-ZÚÑIGA, HÉCTOR MONTOYA-FUENTES, JANETH MARGARITA SOTO-PADILLA, LOURDES DEL CARMEN RIZO-DE LA TORRE

{"title":"Foetal haemoglobin elevation, unfavourable prognosis, and protective role of genetic variants HBG2 rs7482144, HBS1L-MYB rs9399137 and BCL11A rs4671393 in children with ALL","authors":"FRANCISCO JAVIER BORRAYO-LÓPEZ, BERTHA IBARRA-CORTÉS, FRANCISCO JAVIER PEREA-DÍAZ, ABRIL IXCHEL MUÑOZ-ZÚÑIGA, HÉCTOR MONTOYA-FUENTES, JANETH MARGARITA SOTO-PADILLA, LOURDES DEL CARMEN RIZO-DE LA TORRE","doi":"10.1007/s12041-024-01470-0","DOIUrl":"https://doi.org/10.1007/s12041-024-01470-0","url":null,"abstract":"In acute lymphoblastic leukaemia (ALL), elevated foetal haemoglobin (HbF) levels have been associated with the prognosis of patients. Genetic variants in HbF regulatory genes: BAF chromatin remodelling complex subunit (BCL11A), HBS1L-MYB transcriptional GTPase intergenic region (HBS1L-MYB), Krüppel-like factor 1 (KLF1), haemoglobin gamma subunit 2 (HBG2), haemoglobin gamma subunit 1 (HBG1), and haemoglobin subunit beta pseudogene 1 (HBBP1) are often associated with elevated HbF concentration. This study investigated the association of genetic variants in HbF regulatory genes with HbF concentration, unfavourable prognosis, and outcome in children with ALL. We quantified HbF concentration and genotyped 17 genetic variants in 48 patients with ALL and 64 children without ALL as a reference group. HbF concentration was higher in patients than in the reference group (4.4% vs 1.4%), and 75% (n = 36) of the patients had HbF > 2.5%. Unfavourable prognosis ALL was established in 68.8% (n = 33) of the patients. Variant HBG2 rs7482144 was associated with high HbF concentration (P = 0.015); while HBS1L-MYB rs9399137 (P = 0.001), HBG2 rs7482144 (P = 0.001) and the β-globin genes HBG2, HBG1, and HBPP1 haplotype TGC (P = 0.017) with unfavourable prognosis ALL. Additionally, variant BCL11A rs4671393 showed a protective role (P = 0.0001). In conclusion, variants HBG2 rs7482144, HBS1L-MYB rs9399137 and BCL11A rs4671393 may play a significant role in ALL.","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"29 1","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140608701","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

Reflections on assortative mating, social stratification, and genetics 对同配、社会分层和遗传学的思考

IF 1.5 4区生物学

Journal of Genetics Pub Date : 2024-04-08 DOI: 10.1007/s12041-024-01467-9

Oliver Mayo, Vidyanand Nanjundiah

{"title":"Reflections on assortative mating, social stratification, and genetics","authors":"Oliver Mayo, Vidyanand Nanjundiah","doi":"10.1007/s12041-024-01467-9","DOIUrl":"https://doi.org/10.1007/s12041-024-01467-9","url":null,"abstract":"A recent report by G. Clark points to a sustained persistence of social status in England that extends vertically across several generations and horizontally across many levels of kinship. We seek to put his findings in historical perspective. We do so by relating them to two lines of thinking related to biological inheritance. One predated the rediscovery of Mendel’s work and led to the field of quantitative genetics, which dealt on the whole with quasi-continuously varying traits. The other is based on the rediscovery itself and led to a reconciliation between quantitative genetics and discrete Mendelian elements of heredity. Both were enmeshed with the supposed need for, and societal consequences of, eugenics and assortative mating. Also on both issues, the significant ideas can be traced to R. A. Fisher, inspired in one case by F. Galton and in the other by J. A. Cobb, with strong support for Galton and Cobb coming from Karl Pearson. Clark’s findings point to societal stratification, and assortative mating for wealth is a straightforward hypothesis to account for it. However, it should be noted that the findings support, but do not prove, the hypothesis.","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"2 1","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140563334","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

Genetic analysis of a child with severe intellectual disability caused by a novel variant in the FERM domain of the FRMPD4 protein 对一名因 FRMPD4 蛋白的 FERM 结构域中的新型变异而导致严重智力障碍的儿童的遗传分析

IF 1.5 4区生物学

Journal of Genetics Pub Date : 2024-03-05 DOI: 10.1007/s12041-024-01465-x

Hua Pan, Feng Zhu, Kun Chen, Yin Zhang

{"title":"Genetic analysis of a child with severe intellectual disability caused by a novel variant in the FERM domain of the FRMPD4 protein","authors":"Hua Pan, Feng Zhu, Kun Chen, Yin Zhang","doi":"10.1007/s12041-024-01465-x","DOIUrl":"https://doi.org/10.1007/s12041-024-01465-x","url":null,"abstract":"Intellectual developmental disorder, X-linked 104 (XLID104), caused by the FRMPD4 gene variant, is a rare X-linked genetic disease that primarily manifests as intellectual disability (ID) and language delay, and may be accompanied by behavioural abnormalities. Currently, only 11 patients from four families have been reported to carry FRMPD4 gene variants. Here, we report a rare case of a Chinese patient with XLID104 who was presented with severe ID and language impairment. Genetic testing results showed that the patient had a novel hemizygous variant on FRMPD4 inherited from the heterozygous variant NM_001368397: c.1772A>C (p.Glu591Ala) carried by his mother. To our knowledge, this variant has not been reported previously. Western blot results for the recombinant plasmid constructed in vitro indicated that the expression of the mutant protein may be reduced. Using molecular dynamics simulations, we predicted that the mutant protein may affect the interaction of the FRMPD4 protein with DLG4. In this study, we expand the spectrum of FRMPD4 variants and suggest that the clinical awareness of the genetic diagnosis of nonsyndromic ID should be strengthened.","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"21 1","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140033232","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

Multiple mutations in BADH2 gene reveal the novel fragrance allele in indica rice (Oryza sativa L.) BADH2 基因的多个突变揭示了籼稻（Oryza sativa L.）中的新型香味等位基因

IF 1.5 4区生物学

Journal of Genetics Pub Date : 2024-03-01 DOI: 10.1007/s12041-024-01464-y

Sonali Chandanshive, Sarika Mathure, Altafhusain Nadaf

{"title":"Multiple mutations in BADH2 gene reveal the novel fragrance allele in indica rice (Oryza sativa L.)","authors":"Sonali Chandanshive, Sarika Mathure, Altafhusain Nadaf","doi":"10.1007/s12041-024-01464-y","DOIUrl":"https://doi.org/10.1007/s12041-024-01464-y","url":null,"abstract":"The aroma in rice is the most appreciable quality trait, controlled by the loss of function of the betaine aldehyde dehydrogenase 2 (BADH2) gene. In the present study, indica rice cultivars (basmati, nonbasmati aromatic, and nonaromatic) were screened to explore allelic differences in the BADH2 gene using two functional markers (badh2-p-5′UTR and FMbadh2-E7). Notably, the results of the present mutational analysis showed that both markers confirmed a different mutation in indica rice cultivars than earlier reported japonica accessions. It was found that there is 250-bp deletion in the promoter region of aromatic Kagesali and Kalakrishna as compared to nonaromatic Kolamb. The results of FMbadh2-E7 showed 8-bp deletion and six SNPs in exon 7 of the Kalakrishna cultivar. Interestingly, the nonbasmati aromatic Lalbhat rice cultivar did not harbour any reported mutation and showed a novel BADH2 allele carrying 1-bp deletion in exon 7. Among the selected aromatic rice cultivars, eight cultivars showed mutation in the 5′ UTR region and interestingly 23 rice cultivars carried the mutation in both 5′ UTR and exon 7 of a BADH2 gene. The 2-acetyl-1-pyrroline (2AP) biosynthesis related metabolites, enzyme assay and gene expression supported mutation in BADH2 gene and expression of 2AP in aromatic rice cultivars under study.","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"3 1","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140002368","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