Abstract:
:A study was performed to evaluate the effect on the frequency of sister chromatid exchange in first trimester chorionic villi of two chemical compounds, mitomycin C and cyclophosphamide. Mitomycin C is generally known to induce an increase in sister chromatid exchange both in vivo and in vitro standard conditions. Cyclophosphamide is a compound requiring additional enzymatic enrichment of the culture medium to express its mutagenic activity under in vitro conditions. We exposed chorionic villi samples to these chemicals without the use of conventional cell cultures and without adding enzymatic extracts to the medium. The results indicate a statistically significant increase in the frequency of sister chromatid exchange after exposure to both compounds and also at lower dosages.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Pariani S,Buscaglia M,Piantanida M,Simoni Gdoi
10.1136/jmg.29.2.109keywords:
subject
Has Abstractpub_date
1992-02-01 00:00:00pages
109-11issue
2eissn
0022-2593issn
1468-6244journal_volume
29pub_type
杂志文章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 Some of these mutations have already been described; however we report six previously unpublished...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::Fragile X syndrome is the major cause of inherited mental retardation. The molecular basis for the expression of the fragile X phenotype is the expansion of an unstable CGG repeat element which inhibits transcription of the FMR1 gene. The fragile X syndrome shows great diversity in its phenotype as well as in its cyto...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.32.11.907
更新日期:1995-11-01 00:00:00
abstract::BACKGROUND: The clinical severity of disease in neurofibromatosis type 2 (NF2) is variable. Patients affected with a constitutional truncating NF2 mutation have severe disease, while missense mutations or mosaic mutations present with a milder attenuated phenotype. Genotype-derived natural history data are important ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2017-104519
更新日期:2017-10-01 00:00:00
abstract::Glucocerebroside beta-glucosidase (glucocerebrosidase) activity was determined from peripheral blood lymphocytes and cultured skin fibroblasts of eight full sibs in a French-Canadian family at risk for Gaucher disease, an autosomal recessive sphingolipidosis resulting from deficient glucocerebrosidase activity. The di...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.25.5.322
更新日期:1988-05-01 00:00:00
abstract::There is significant evidence for genetic and phenotypic heterogeneity in X linked retinitis pigmentosa (XLRP). We have studied the linkage of XLRP in four Irish families to a number of polymorphic DNA markers. We report linkage between the DXS7 (L1.28) locus and the XLRP locus (Z = 3.445, theta = 0.00). Combined with...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.25.4.222
更新日期:1988-04-01 00:00:00
abstract::To illustrate the variable clinical presentations and rates of progression in familial hypertrophic cardiomyopathy (FHC), phenotypes and genotypes were compared in three FHC families with different genetic defects. In the first family, the FHC abnormality was a protein truncating mutation (Gln969X) in the cardiac myos...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.35.3.183
更新日期:1998-03-01 00:00:00
abstract::Mutations in genes involved in Ras signalling cause Noonan syndrome and other disorders characterised by growth disturbances and variable neuro-cardio-facio-cutaneous features. We describe two sisters, 46 and 31 years old, who presented with dysmorphic features, hypotonia, feeding difficulties, retarded growth and psy...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2007.049361
更新日期:2007-07-01 00:00:00
abstract::A two generation family with neurofibromatosis type 2 (NF2) is presented in which a family member requested presymptomatic molecular diagnosis. Since the consultand's mother had clinically well defined NF2, he was quoted to be at 50% risk of carrying an NF2 mutation. Mutation screening in the mother did not show the c...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.34.11.934
更新日期:1997-11-01 00:00:00
abstract:BACKGROUND:Retinitis pigmentosa (RP) is the most common form of inherited retinal dystrophy, with a worldwide prevalence of 1 in 4000 persons. While in most cases of RP, the disease is limited to the eye (non-syndromic), over 40 forms of syndromic RP have been described. OBJECTIVES:To identify the genetic basis for sy...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2017-104632
更新日期:2017-09-18 00:00:00
abstract::Complete ascertainment of adult onset limb-girdle muscular dystrophy in the Lothian Region of Scotland was attempted. Ten index cases were identified giving a prevalence of 1.3 per 100 000 (0.9 per 100 000 for cases where the diagnosis of muscular dystrophy was supported by both electromyographic and muscle biopsy fin...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.22.4.250
更新日期:1985-08-01 00:00:00
abstract::A girl aged 14 years 9 months, overweight, with severe psychomotor retardation, short stature, a sheep-like face, malformed ears, skeletal and dermatoglyphic abnormalities, and partial deletion of the short arm of chromosome 1 is presented. The karyotype was 46,XX,del(1)(qter to p22::p32 to pter). ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.16.4.323
更新日期:1979-08-01 00:00:00
abstract::Immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX, OMIM 304790) is a rare, recessive disorder resulting in aggressive autoimmunity and early death. Mutations in FOXP3 have been identified in 13 of 14 patients tested. Research in the mouse model, scurfy, suggests that autoimmunity may stem from a lac...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmg.39.8.537
更新日期:2002-08-01 00:00:00
abstract::There are 23 females known with Duchenne or Becker muscular dystrophy (DMD or BMD) who have X;autosome translocations that disrupt the X chromosome within band p21. A female with a t(X;4)(p21;q35) translocation was identified prenatally at routine amniocentesis. At birth, she was found to have a raised CK level, consi...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.27.7.426
更新日期:1990-07-01 00:00:00
abstract::The LMNA gene gives rise to at least three isoforms (lamin A, C, lamin AΔ10) as a result of normal alternative splicing, regulated by cis- and trans-acting regulatory factors, as well as the 5' and 3' untranslated regions of the gene. The two main isoforms, lamin A and C, are constitutive components of the fibrous nuc...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmedgenet-2013-102119
更新日期:2014-04-01 00:00:00
abstract:BACKGROUND:Hyperparathyroidism is a common endocrinopathy characterised by the formation of parathyroid tumours. In this study, we determine the role of the recently identified gene, HRPT2, in parathyroid tumorigenesis. METHODS:Mutation analysis of HRPT2 was undertaken in 60 parathyroid tumours: five HPT-JT, three FIH...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.40.9.657
更新日期:2003-09-01 00:00:00
abstract::The molecular characterisation of chromosomal aberrations in Xp22.3 has established the map position of several genes with mutations resulting in diverse phenotypes such as short stature (SS), chondrodysplasia punctata (CDPX), mental retardation (MRX), ichthyosis (XLI), and Kallmann syndrome (KAL). We describe the cli...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.30.10.838
更新日期:1993-10-01 00:00:00
abstract::We identified a large French-Canadian family with 21 cases of breast cancer, including two affected brothers. Segregation of markers from chromosome 13q in this family showed linkage to the BRCA2 gene locus (lod = 3.67 at D13S289). A number of cancers of other types occurred in this family, including three cases of pr...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.32.12.982
更新日期:1995-12-01 00:00:00
abstract:BACKGROUND:The diagnosis of calpainopathy is obtained by identifying calpain-3 protein deficiency or CAPN3 gene mutations. However, in many patients with limb girdle muscular dystrophy type 2A (LGMD2A), the calpain-3 protein quantity is normal because loss-of-function mutations cause its enzymatic inactivation. The ide...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2006.044859
更新日期:2007-01-01 00:00:00
abstract::Linkage between the locus for cystic fibrosis and other genetic markers was explored in 40 families from Birmingham and 20 from Manchester. No strong evidence was found for linkage with any of the markers examined. There was evidence against close linkage with ABO, HLA, and Rh. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.13.6.417
更新日期:1976-12-01 00:00:00
abstract:BACKGROUND:Ichthyosis and neurological involvement occur in relatively few known Mendelian disorders caused by mutations in genes relevant both for epidermis and neural function. OBJECTIVES:To identify the cause of a similar phenotype of ichthyotic keratoderma, spasticity, mild hypomyelination (on MRI) and dysmorphic ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2017-105172
更新日期:2018-06-01 00:00:00
abstract:BACKGROUND:Chromosomal rearrangements, arising from unequal recombination between repeated sequences, are found in a subset of patients with autism. Duplications involving loci associated with behavioural disturbances constitute an especially good candidate mechanism. The Williams-Beuren critical region (WBCR), located...
journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2006.047092
更新日期:2007-07-01 00:00:00
abstract::In type I familial amyloid polyneuropathy (FAP) caused by a variant Met30-transthyretin (TTR), genetic anticipation has been reported. To determine whether anticipation of the disease is a true biological phenomenon or the result of ascertainment bias, we compared age at onset of the affected child with that of the af...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.35.1.23
更新日期:1998-01-01 00:00:00
abstract:BACKGROUND:The hallmark of the neurobehavioural phenotype of Williams-Beuren syndrome (WBS) is increased sociability and relatively preserved language skills, often described as opposite to autism spectrum disorders (ASD). However, the prevalence of ASD in WBS is 6-10 times higher than in the general population. We hav...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2019-106080
更新日期:2019-12-01 00:00:00
abstract::Chromosome and enzyme determinations were performed in 250 pregnancies between the 7th and the 12th week of gestation. The majority of the tests were performed for risk of chromosomal abnormalities and 75% of the women were 35 years old or more. We describe a chorionic villi sampling (CVS) technique which proved to be...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.22.2.92
更新日期:1985-04-01 00:00:00
abstract:BACKGROUND:Sensenbrenner syndrome is a heterogeneous ciliopathy that is characterised by skeletal and ectodermal anomalies, accompanied by chronic renal failure, heart defects, liver fibrosis and other features. OBJECTIVE:To identify an additional causative gene in Sensenbrenner syndrome. METHODS:Single nucleotide po...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2011.088864
更新日期:2011-06-01 00:00:00
abstract:BACKGROUND:Clubfoot is a common congenital birth defect with complex inheritance patterns. Currently, the genetic and morphological basis of clubfoot is poorly understood. To identify genetic risk factors associated with clubfoot, we performed a genome-wide association study of common genetic variants. METHODS:The DNA...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2014-102303
更新日期:2014-05-01 00:00:00
abstract::A family with juvenile proximal spinal muscular atrophy with dominant inheritance and complete penetrance is reported. The disease occurred in three generations and showed high variations in the age of onset and progression among the affected members. A characteristic feature was the constant involvement of facial nuc...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.13.2.131
更新日期:1976-04-01 00:00:00
abstract::A Newfoundland kindred in which ocular albinism and deutan colour blindness are segregating provides strong evidence against the loci for these two X-borne characters being within direct measurable distance of each other. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.13.4.319
更新日期:1976-08-01 00:00:00
abstract::We report the occurrence of progressive Brown-Séquard syndrome as the presenting clinical feature of cervical spondylosis in a young patient with Stickler's syndrome. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.29.3.200
更新日期:1992-03-01 00:00:00
abstract::Prolidase deficiency (PD) is a rare autosomal recessive connective tissue disorder caused by mutations in the prolidase gene. The PD patients show a wide range of clinical outcomes characterised mainly by intractable skin ulcers, mental retardation and recurrent respiratory infections. Here we describe five different ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2006.043315
更新日期:2006-12-01 00:00:00