Abstract:
BACKGROUND:Preeclampsia can lead to adverse maternal and perinatal outcomes. There are few studies on the association of preeclampsia with thrombophilia in Africa including Sudan. METHODS:A case -controls study was conducted at Saad Abualila Hospital in Khartoum, Sudan during the period of February through November 2017. The cases were women with preeclampsia and healthy pregnant women were the controls (180 women in each arm of the study). Genotyping for Factor-V Leiden 1691G/A and Prothrombin gene variation 20210G/A was done by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). RESULTS:There was no significant difference in the age, parity, body mass index (BMI) and the other characteristics between the cases and the controls. Genotypes distribution of Factor V Leiden 1691G/A and prothrombin gene 20210G/A in controls was in accordance with the Hardy-Weinberg equilibrium (P > 0.05). The factor V Leiden-variation was present in 9.6% of the cases compared with 0.6% of the controls, P < 0.001 (OR = 18.60, 95% CI = 2.38-136.1). Only 4 patients with severe preeclampsia had homozygous variation A/A and it was not detected in the controls. Prothrombin G20210A variations not detected neither in the cases nor in the controls group. CONCLUSIONS:High prevalence of Factor V Leiden 1691G/A variation in preeclamptic patients compared to controls suggest an involvement of this variation in predisposing to preeclampsia in this setting.
journal_name
BMC Med Genetjournal_title
BMC medical geneticsauthors
Ahmed NA,Adam I,Elzaki SEG,Awooda HA,Hamdan HZdoi
10.1186/s12881-018-0737-zsubject
Has Abstractpub_date
2019-01-05 00:00:00pages
2issue
1issn
1471-2350pii
10.1186/s12881-018-0737-zjournal_volume
20pub_type
杂志文章abstract:BACKGROUND:Methylenetetrahydrofolate reductase (MTHFR) has a major impact on the regulation of the folic acid pathway due to conversion of 5,10-methylenetetrahydrofolate (methylene-THF) to 5-methyl-THF. Two common polymorphisms (677C>T and 1298A>C) in the gene coding for MTHFR have been shown to reduce MTHFR enzyme act...
journal_title:BMC medical genetics
pub_type: 杂志文章,多中心研究
doi:10.1186/1471-2350-6-23
更新日期:2005-05-27 00:00:00
abstract:BACKGROUND:CHARGE syndrome is characterized by coloboma, heart defects, choanal atresia, growth retardation, genitourinary malformation and ear abnormalities. The chromodomain helicase DNA-binding protein 7 (CHD7) gene is the major cause of CHARGE syndrome and is inherited in an autosomal dominant manner. Currently, th...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-019-0813-z
更新日期:2019-05-30 00:00:00
abstract:BACKGROUND:The PALB2 c.2323C>T [p.Q775X] mutation has been reported in at least three breast cancer families and breast cancer cases of French Canadian descent and this has been attributed to common ancestors. The number of mutation-positive cases reported varied based on criteria of ascertainment of index cases tested...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-14-5
更新日期:2013-01-09 00:00:00
abstract:BACKGROUND:L. braziliensis causes cutaneous (CL) and mucosal (ML) leishmaniasis. Wound healing neutrophil (PMN) and macrophage responses made following the bite of the vector sand fly contribute to disease progression in mice. To look at the interplay between PMN and macrophages in disease progression in humans we aske...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-11-10
更新日期:2010-01-20 00:00:00
abstract:BACKGROUND:Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe inherited cardiac disorder caused by mutations predominantly in the ryanodine receptor (RyR2) gene. We sought to identify mutations in genes affecting cardiac calcium cycling in patients with CPVT and in less typical familial exercise-r...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-10-12
更新日期:2009-02-12 00:00:00
abstract:BACKGROUND:Nakajo-Nishimura syndrome (NNS) is an autosomal recessive heredity disorder, one of a spectrum of autoinflammatory diseases named proteasome-associated autoinflammatory syndrome (PRAAS) caused by mutations of PSMB8 gene. NNS is characterized by pernio-like skin rashes, intermittent fever, and long clubbed fi...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-020-01060-8
更新日期:2020-06-08 00:00:00
abstract:BACKGROUND:Many myopathies share clinical features in common, and diagnosis often requires genetic testing. We ascertained a family in which five siblings presented with distal muscle weakness of unknown etiology. METHODS:We performed high-density genomewide linkage analysis and mutation screening of candidate genes t...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-12-87
更新日期:2011-06-28 00:00:00
abstract:BACKGROUND:Polydactyly is one of the most common congenital hand/foot malformations in humans. Mutations in GLI3 have been reported to cause syndromic and non-syndromic forms of preaxial and postaxial polydactylies. CASE PRESENTATION:The patient was a 2-year-old boy who underwent surgery in our hospital. The right han...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-019-0889-5
更新日期:2019-11-09 00:00:00
abstract:BACKGROUND:Insulin secretion is enhanced upon the binding of Glucagon-like peptide-1 (GLP-1) to its receptor (GLP1R) in pancreatic β cells. Although a reduced expression of GLP1R in pancreatic islets from type 2 diabetic patients and hyperglycaemic rats has been established, it is still unknown if this is caused by dif...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-14-76
更新日期:2013-07-23 00:00:00
abstract:BACKGROUND:Cryptic structural abnormalities within the subtelomeric regions of chromosomes have been the focus of much recent research because of their discovery in a percentage of people with mental retardation (UK terminology: learning disability). These studies focused on subjects (largely children) with various sev...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-5-21
更新日期:2004-08-13 00:00:00
abstract:BACKGROUND:Retinitis pigmentosa (RP), a clinically and genetically heterogeneous group of retinal degeneration disorders affecting the photoreceptor cells, is one of the leading causes of genetic blindness. Mutations in the photoreceptor-specific gene RP1 account for 3-10% of cases of autosomal dominant RP (adRP). Most...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-7-35
更新日期:2006-04-05 00:00:00
abstract:BACKGROUND:Hereditary hemorrhagic telangiectasia (HHT) is a vascular multi-organ system disorder. Its diagnostic criteria include epistaxis, telangiectases in mucocutaneous sites, arteriovenous malformations (AVMs), and familial inheritance. HHT is transmitted as an autosomal dominant condition, caused in 85% of cases ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-017-0380-0
更新日期:2017-02-23 00:00:00
abstract:BACKGROUND:Cohen syndrome (CS) is an uncommon developmental disease with evident clinical heterogeneity. VPS13B is the only gene responsible for CS. Only few sporadic cases of CS have been reported in China. CASE PRESENTATION:A Chinese family with two offspring-patients affected by developmental delay and intellectual...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-019-0920-x
更新日期:2019-11-21 00:00:00
abstract:BACKGROUND:Neurofibromatosis type-1 (NF1) is caused by mutations of the NF1 gene at 17q11.2. In 95% of non-founder NF1 patients, NF1 mutations are identifiable by means of a comprehensive mutation analysis. 5-10% of these patients harbour microdeletions encompassing the NF1 gene and its flanking regions. NF1 is charact...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-13-98
更新日期:2012-10-26 00:00:00
abstract:BACKGROUND:The TWNK gene encodes the twinkle protein, which is a mitochondrial helicase for DNA replication. The dominant TWNK variants cause progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, while the recessive variants cause mitochondrial DNA depletion syndrome 7 and Perraul...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-020-01002-4
更新日期:2020-03-31 00:00:00
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journal_title:BMC medical genetics
pub_type: 杂志文章,评审
doi:10.1186/s12881-019-0780-4
更新日期:2019-03-19 00:00:00
abstract:BACKGROUND:Progressive familial intrahepatic cholestasis (PFIC) type 3 is an autosomal recessive disorder arising from mutations in the ATP-binding cassette subfamily B member 4 (ABCB4) gene. This gene encodes multidrug resistance protein-3 (MDR3) that acts as a hepatocanalicular floppase that transports phosphatidylch...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-020-01173-0
更新日期:2020-11-30 00:00:00
abstract:BACKGROUND:Cerebral folate deficiency (CFD) is a neurological disease, hallmarked by remarkable low concentrations of 5-methyltetrahydrofolic acid (5-MTHF) in cerebrospinal fluid (CSF). The primary causes of CFD include the presence of folate receptor (FR) autoantibodies, defects of FR encoding gene FOLR1, mitochondria...
journal_title:BMC medical genetics
pub_type: 杂志文章
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更新日期:2020-11-26 00:00:00
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journal_title:BMC medical genetics
pub_type: 杂志文章
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更新日期:2016-06-10 00:00:00
abstract:BACKGROUND:Pulmonary capillary hemangiomatosis (PCH) is an uncommon pulmonary disorder, with variable clinical features depending on which lung structure is affected, and it is usually linked to pulmonary arterial hypertension. Congenital PCH has been very rarely described and, so far, the only causative gene identifie...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-015-0241-7
更新日期:2015-10-13 00:00:00
abstract:BACKGROUND:Argininosuccinic aciduria (ASAuria; OMIM 207900) is a rare autosomal recessive heterogeneous urea cycle disorder, which leads to the accumulation of argininosuccinic acid in the blood and urine. We aimed to perform genetic test to the patient and help clinician to diagnose precisely. CASE PRESENTATION:In th...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-016-0273-7
更新日期:2016-02-03 00:00:00
abstract:BACKGROUND:Visceral obesity and metabolic syndrome are commonly associated with non-alcoholic fatty liver disease (NAFLD). The progression of steatosis to NASH depends on a number of metabolic and patient-related factors. The mechanisms of genetic predisposition towards the development of NASH and related fibrosis rema...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-016-0324-0
更新日期:2016-09-05 00:00:00
abstract:BACKGROUND:A large number of distinct mutations in the BRCA1 and BRCA2 genes have been reported worldwide, but little is known regarding the role of these inherited susceptibility genes in breast cancer risk among Indian women. We investigated the distribution and the nature of BRCA1 and BRCA2 germline mutations and po...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-7-75
更新日期:2006-10-04 00:00:00
abstract:BACKGROUND:Epigenetics could facilitate greater understanding of disparities in the emergence of childhood obesity. While blood is a common tissue used in human epigenetic studies, saliva is a promising tissue. Our prior findings in non-obese preschool-aged Hispanic children identified 17 CpG dinucleotides for which di...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-020-0968-7
更新日期:2020-02-14 00:00:00
abstract:BACKGROUND:Bone morphogenetic protein 4 gene (BMP4) plays a key role during maxillofacial development, since orofacial clefts are observed in animals when this gene is conditionally inactivated. We recently reported the existence of association between nonsyndromic cleft lip/palate (NSCLP) and BMP4 polymorphisms by det...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-12-163
更新日期:2011-12-19 00:00:00
abstract:BACKGROUND:Diabetes mellitus (DM) is divided into four different etiological categories: type 1 DM (T1DM), type 2 DM (T2DM), other specific types, and gestational DM. One severe complication of T2DM is type 2 diabetic nephropathy (T2DN). The possible association of serum transforming growth factor-β1 (TGF-β1) levels an...
journal_title:BMC medical genetics
pub_type: 杂志文章,meta分析
doi:10.1186/s12881-018-0717-3
更新日期:2018-11-20 00:00:00
abstract:BACKGROUND:Platelet-derived growth factor (PDGF) D has been reported to be active in fibroblasts, and in areas of myocardial infarction. In this longitudinal study we evaluated the association between PDGF-D polymorphism and cardiovascular mortality, and attempted to discover whether specific genotype differences regar...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-016-0325-z
更新日期:2016-09-01 00:00:00
abstract:BACKGROUND:Genetic susceptibility plays a key role in the development of nasopharyngeal carcinoma (NPC) and in fact the disease presents with an unusually high incidence in certain regions of the world like North Africa. We investigated the association between polymorphism of the Transforming growth factor-β1 (TGF-β1) ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-016-0337-8
更新日期:2016-10-12 00:00:00
abstract:BACKGROUND:We have recently developed a highly accurate urine-based test, named Urodiag®, associating FGFR3 mutation and DNA methylation assays for recurrence surveillance in patients with low-, intermediate-, and high-risk NMIBC. Previously, the detection of four FGFR3 mutations (G372C, R248C, S249C and Y375C) require...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-020-01050-w
更新日期:2020-05-24 00:00:00
abstract:BACKGROUND:Six asthma candidate genes, ADAM33, NPSR1, PHF11, DPP10, HLA-G, and CYFIP2, located at different chromosome regions have been positionally cloned following the reported linkage studies. For ADAM33, NPSR1, and CYFIP2, the associations with asthma or asthma-related phenotypes have been studied in East Asian po...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-10-123
更新日期:2009-12-01 00:00:00