Abstract:
:The fragile X syndrome is a common cause of mental impairment. In view of the low reproductive fitness of affected males, the high incidence of the syndrome has been suggested to be the result of a high rate of new mutations occurring exclusively in the male germline. Extensive family studies, however, have failed to identify any cases of a new mutation. Alternatively, it has been suggested that a selective advantage of unaffected heterozygotes may, in part, explain the high incidence of the syndrome. Molecular investigations have shown that the syndrome is caused by the amplification of a CGG trinucleotide repeat in the FMR-1 gene which leads to the loss of gene expression. Further to this, genetic studies have suggested that there is evidence of linkage disequilibrium between the fragile X disease locus and flanking polymorphic markers. More recently, this analysis has been extended and has led to the observation that a large number of fragile X chromosomes appear to be lineage descendants of founder mutation events. Here, we present a study of the FRAXAC1 polymorphic marker in our patient cohort. We find that its allele distribution is strikingly different on fragile X chromosomes, confirming the earlier observations and giving further support to the suggestions of a fragile X founder effect.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Hirst MC,Knight SJ,Christodoulou Z,Grewal PK,Fryns JP,Davies KEdoi
10.1136/jmg.30.8.647subject
Has Abstractpub_date
1993-08-01 00:00:00pages
647-50issue
8eissn
0022-2593issn
1468-6244journal_volume
30pub_type
杂志文章abstract:BACKGROUND:Cenani-Lenz syndrome (CLS) is an autosomal recessive condition characterised by a unique pattern of syndactyly, and variable penetrance of renal agenesis and facial dysmorphism. LRP4 mutations were identified in most, but not all patients with this syndrome, suggesting the presence of at least one additional...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2014-102850
更新日期:2015-05-01 00:00:00
abstract::Evidence is presented to support the recent suggestion that human neural tube closure is similar to that observed in mice, and comprises several regionally distinct closure sites rather than being a simple zipping up process. Seven subjects, each with more than one neural tube defect (NTD), are described. Comparative ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.32.3.205
更新日期:1995-03-01 00:00:00
abstract:BACKGROUND:Recessive forms of osteogenesis imperfecta (OI) may be caused by mutations in LEPRE1, encoding prolyl 3-hydroxylase-1 (P3H1) or in CRTAP, encoding cartilage associated protein. These proteins constitute together with cyclophilin B (CyPB) the prolyl 3-hydroxylation complex that hydroxylates the Pro986 residue...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2008.062729
更新日期:2009-04-01 00:00:00
abstract::The macrophage resistance gene NRAMP1 regulates priming/activation of macrophages for enhanced TNF alpha, IL 1 beta, and MHC class II expression. Since all of these functions are of potential importance in the induction or maintenance or both of autoimmune disease, samples from the Arthritis and Rheumatism Council's r...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.33.8.672
更新日期:1996-08-01 00:00:00
abstract::Myotonic dystrophy (DM) is associated with the expansion and instability of a trinucleotide (CTG) repeat at the DM locus on chromosome 19. Direct genomic analysis in the German population was carried out on 18 DM families, six families with equivocal diagnosis, 69 subjects with equivocal clinical diagnosis, and 100 co...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.32.8.645
更新日期:1995-08-01 00:00:00
abstract::Autism spectrum disorders represent a group of developmental disorders with strong genetic underpinnings. Several cytogenetic abnormalities or de novo mutations able to cause autism have recently been uncovered. In this study, the literature was reviewed to highlight genotype-phenotype correlations between causal gene...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmg.2008.060871
更新日期:2009-01-01 00:00:00
abstract::Published reports on the sex ratio of spina bifida have been reviewed. With one exception, there seems to be no evidence of variation in the sex ratio of spina bifida. In particular, unlike anencephaly, the sex ratio of spina bifida seems to be unrelated to the prevalence of the malformation: this (M/(M+F)) is of the ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.16.5.384
更新日期:1979-10-01 00:00:00
abstract:BACKGROUND:There are few empirical data to inform the debate surrounding the use and regulation of direct-to-consumer (DTC) genome-wide disease risk tests. This study aimed to determine the long term psychological, behavioural, and clinical impacts of genomic risk testing for common disease. METHODS:The Scripps Genomi...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2012-101207
更新日期:2013-06-01 00:00:00
abstract::Gaucher disease results, in most patients, from mutations in the gene encoding glucocerebrosidase. Mutation D409H is the third most frequent in Spanish patients, accounting for 5.7% of all mutated alleles. This allele is associated mainly with the neurological forms of the disease. Recently, homozygosity for the D409H...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.35.9.775
更新日期:1998-09-01 00:00:00
abstract::Inherited optic neuropathies are a significant cause of childhood and adult blindness and dominant optic atrophy (DOA) is the most common form of autosomally inherited (non-glaucomatous) optic neuropathy. Patients with DOA present with an insidious onset of bilateral visual loss and they characteristically have tempor...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmg.35.10.793
更新日期:1998-10-01 00:00:00
abstract:BACKGROUND:Submicroscopic subtelomeric chromosome defects have been found in 7.4% of children with moderate to severe mental retardation and in 0.5% of children with mild retardation. Effective clinical preselection is essential because of the technical complexities and cost of screening for subtelomere deletions. MET...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.38.3.145
更新日期:2001-03-01 00:00:00
abstract:BACKGROUND:The genetic complexity of infantile cardiomyopathies is remarkable, and the importance of mitochondrial translation defects as a causative factor is only starting to be recognised. We investigated the genetic basis for infantile onset recessive hypertrophic cardiomyopathy in two siblings. METHODS AND RESULT...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2012-101375
更新日期:2013-03-01 00:00:00
abstract:BACKGROUND:Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's disease, is an X-linked motor neuron disorder caused by an expanded CAG repeat in the gene coding for the androgen receptor (AR). The range and significance of reduced penetrance alleles in SBMA has not been fully determined to date. We prese...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2020-106963
更新日期:2020-06-22 00:00:00
abstract:BACKGROUND:Heart-hand syndromes are a heterogeneous group of genetic disorders characterised by the association of congenital cardiac disease and limb deformities. Laminopathies are a group of diseases caused by mutations in the LMNA gene encoding A-type lamins. RESULTS:We report a new LMNA mutation (c.1609-12T>G, IVS...
journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2008.060020
更新日期:2008-10-01 00:00:00
abstract::The occurrence of primary lymphoedema with distichiasis is well recognised, but that the form of lymphoedema appears restricted to bilateral hyperplasia, as defined by lymphography, has not been reported. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.24.3.170
更新日期:1987-03-01 00:00:00
abstract:BACKGROUND:Sonic hedgehog (SHH) plays an important role in defining the anterior-posterior axis in the developing limbs. A highly conserved non-coding sequence about approximately 1 Mb upstream from the sonic hedgehog gene (SHH) was shown to be a long range regulator for SHH expression in the limb bud. Point mutations ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2007.055699
更新日期:2008-06-01 00:00:00
abstract:OBJECTIVES:Current technologies for delivering gene testing are labour-intensive and expensive. Over the last 3 years, new high-throughput DNA sequencing techniques (next generation sequencing; NGS), with the capability to analyse multiple genes or entire genomes, have been rapidly adopted into research. This study exa...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2012-100847
更新日期:2012-05-01 00:00:00
abstract:BACKGROUND:Orofacial cleft (OFC) is the most prevalent craniofacial birth defect. Genes involved in one-carbon, folate and vitamin B12 metabolisms have been associated with OFC but no study performed a concomitant assessment on genes involved in these three pathways. OBJECTIVE:We looked for potential genetic variants ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2016-104111
更新日期:2016-12-01 00:00:00
abstract::A 2-year-old boy with macrocephaly, communicating hydrocephalus, and mild hepatosplenomegaly was found to have mild Hunter syndrome (MPS II). Establishment of the latter diagnosis was complicated by the paucity of obvious physical findings because of the patient's young age and his ethnic origin. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.14.6.445
更新日期:1977-12-01 00:00:00
abstract::The APC gene was investigated in 31 unrelated polyposis coli families by SSCP analysis and the protein truncation test. Twenty-three germline mutations were identified which gave rise to a variety of different phenotypes. Some of these mutations have already been described; however we report six previously unpublished...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.33.4.274
更新日期:1996-04-01 00:00:00
abstract::Mitochondria play a central role in the secretion of insulin by pancreatic beta-cells, and pathogenic mutations of mitochondrial DNA (mtDNA) can cause diabetes. The aetiology of type 2 diabetes has a strong genetic component, raising the possibility that genetic variants of mtDNA alter the risk of developing the disor...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2007.048876
更新日期:2007-06-01 00:00:00
abstract::Type 1 Gaucher disease families were studied in an attempt to establish a phenotype/genotype correlation in affected persons and also to identify carriers accurately. In the Portuguese type 1 Gaucher patients, screening for mutations N370S, L444P, R463C, and 1066 + 1 G-->A allowed the identification of 85% of the alle...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.31.5.401
更新日期:1994-05-01 00:00:00
abstract::Ehlers-Danlos syndrome (EDS) is a heterogeneous group of connective tissue disorders. Recently mutations have been found in the genes for type V collagen in a small number of people with the most common forms of EDS, types I and II. Here we characterise a COL5A2 mutation in an EDS II family. Cultured dermal fibroblast...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.35.10.846
更新日期:1998-10-01 00:00:00
abstract::Twenty-five affected women of reproductive age known to the North West Regional Genetics Family Register (NWRGFR) were interviewed. A semistructured questionnaire, completed by the interviewer, was used to assess understanding and experience of the clinical and genetic aspects of myotonic dystrophy (MD) and attitudes ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.35.12.1020
更新日期:1998-12-01 00:00:00
abstract::The evidence that genetic and immunogenetic influences operate in the causation of pre-eclampsia/eclampsia (gestosis) is reviewed. The problems of definitive diagnosis are discussed along with the possibility of a multifactorial aetiology. The difficulties of differentiating trigger and effector mechanisms are also co...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.13.3.200
更新日期:1976-06-01 00:00:00
abstract::The results of 200 antenatal diagnoses in pregnancies at risk for homozygous beta-thalassaemia, carried out on fetal blood samples obtained by placental aspiration in the second trimester, are described. Globin chain synthesis in the fetuses was measured by means of 3H-leucine incorporation and separation of the chain...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.19.2.81
更新日期:1982-04-01 00:00:00
abstract::Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive multisystem disorder caused by thymidine phosphorylase (TP) deficiency, resulting in severe gastrointestinal dysmotility and skeletal muscle abnormalities. A patient is reported with a classical MNGIE clinical presentation but with...
journal_title:Journal of medical genetics
pub_type: 杂志文章,多中心研究
doi:10.1136/jmg.2003.013789
更新日期:2004-02-01 00:00:00
abstract::The mean paternal age at birth of 80 presumed mutant cases of dominant osteogenesis imperfecta (OI) was significantly higher than that of population controls and remained so after adjusting for maternal age. There was also an increase in mean maternal age (not significant) which disappeared after adjusting for paterna...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.23.3.227
更新日期:1986-06-01 00:00:00
abstract:BACKGROUND:Lysosomal protein profiling is being developed as a high throughput method to screen populations for lysosomal storage disorders (LSD). DESIGN:1415 blood spots from patients referred to a metabolic clinic for LSD were screened using a single multiplex assay for 14 proteins in a dried blood spot. RESULTS:Al...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2010.088096
更新日期:2011-06-01 00:00:00
abstract::DNA from 20 Italian haemophilia B patients was analysed by the Southern blotting technique and hybridisation to a factor IX cDNA probe. A large deletion of factor IX gene was detected in one patient with antibodies to the infused factor; the EcoRI pattern of the other 19 subjects examined was normal. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.22.4.305
更新日期:1985-08-01 00:00:00