Abstract:
:The spontaneous and mitomycin C (MMC) induced sister chromatid exchange (SCE) frequencies were examined in five adults with myotonic dystrophy (MD). There was no significant difference in the spontaneous incidence of SCE between MD patients and controls. However, a significantly enhanced response to the induction of SCE by MMC was observed in three of the five MD patients who were severely affected, while no such enhancement was observed in the other two mildly affected cases. These results suggest that the raised response may be a secondary consequence associated with disease progression. No differences were observed between the proliferating rate in vitro of lymphocytes of severe and mild cases of MD and controls, but the severe cases showed a significant increase in the proportion of T cells in peripheral blood. It is suggested that the observed enhanced response to MMC may reflect an increase in the proportion of a more sensitive subset of T cells in the peripheral blood.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Vijayalaxmi,Emery AE,Evans HJdoi
10.1136/jmg.19.2.135subject
Has Abstractpub_date
1982-04-01 00:00:00pages
135-8issue
2eissn
0022-2593issn
1468-6244journal_volume
19pub_type
杂志文章abstract::We have analysed 40 marker loci on 13 chromosomes for linkage with Marfan syndrome. None of the loci was linked to the Marfan syndrome locus at theta = 0.00. This study provides a basis for an exclusion map and for further collaboration in mapping of the locus. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.27.2.86
更新日期:1990-02-01 00:00:00
abstract::HLA and Gm typing were carried out in 16 families. Seven families included 10 sib pairs with rheumatoid arthritis (RA) and autoimmune thyroid disease (ATD) respectively, and nine families included 16 sib pairs with RA and circulating thyroid autoantibodies respectively. Eight, 11, and seven sib pairs with either RA or...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.22.6.451
更新日期:1985-12-01 00:00:00
abstract::Familial amyotrophic lateral sclerosis (FALS) has recently been shown to be linked to chromosome 21 markers in a subset of families. However, we were unable to show linkage between FALS and chromosome 21 markers which flank the putative FALS locus in UK families. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.30.4.318
更新日期:1993-04-01 00:00:00
abstract::The accidental discovery, in an inguinal hernia, of a male gonad in a 67-year-old woman is reported. The association of an unambiguous female phenotype with a purely male karyotype and a male gonad suggests the diagnosis of testicular feminisation. The differential diagnosis, particularly of testicular feminisation wi...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.15.3.229
更新日期:1978-06-01 00:00:00
abstract:BACKGROUND:Although BRCA1 and BRCA2 mutations account for only ∼27% of the familial aggregation of ovarian cancer (OvC), no OvC risk prediction model currently exists that considers the effects of BRCA1, BRCA2 and other familial factors. Therefore, a currently unresolved problem in clinical genetics is how to counsel w...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2015-103077
更新日期:2015-07-01 00:00:00
abstract::Recent studies have shown that the G-allele of MDM2 SNP309 (T/G) in the p53 tumour suppressor pathway can accelerate tumorigenesis and alter the risk of various cancers in women and not in men. In this report, data are presented from two independent groups of patients that suggest that the G-allele of SNP309 accelerat...
journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2006.043539
更新日期:2006-12-01 00:00:00
abstract::Clinical and radiographic evaluation of an infant boy and his father revealed findings suggesting a new variant of spondylometaphyseal dysplasia with an apparently autosomal dominant mode of inheritance. The main clinical findings included short stature and marked ligamentous laxity in the infant. X-ray findings inclu...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.19.2.104
更新日期:1982-04-01 00:00:00
abstract:BACKGROUND:Rare variants in hundreds of genes have been implicated in developmental delay (DD), intellectual disability (ID) and neurobehavioural phenotypes. TNRC6B encodes a protein important for RNA silencing. Heterozygous truncating variants have been reported in three patients from large cohorts with autism, but no...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2019-106470
更新日期:2020-10-01 00:00:00
abstract::The observation of Campbell and Price in 1979 that their Unit had diagnosed four subjects with both Klinefelter's syndrome and congenital hypothyroidism raised the suspicion of an association between the two conditions. This, and the published reports of an XX male, five XXY males, and one mosaic XY/XXY with congenita...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.25.4.247
更新日期:1988-04-01 00:00:00
abstract:BACKGROUND:The 5α-reductase type 2 (5α-RD2) deficiency caused by mutations in the steroid 5α-reductase 2 (SRD5A2) gene results in variable degrees of undervirilisation in patients with 46,XY disorders of sex development. This study aims to profile the regional distribution and phenotype-genotype characteristics of SRD5...
journal_title:Journal of medical genetics
pub_type: 杂志文章,多中心研究
doi:10.1136/jmedgenet-2018-105915
更新日期:2019-10-01 00:00:00
abstract:OBJECTIVE:Homozygous deletions/mutations of the SMN1 gene cause infantile spinal muscular atrophy (SMA). The presence of at least one SMN2 gene copy is required for normal embryogenesis. Lack of SMN protein results in degeneration of motor neurons, while extraneuronal manifestations have been regarded as a chance assoc...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2008.057950
更新日期:2008-10-01 00:00:00
abstract::The risk of breast cancer for unaffected men who test positive for a BRCA2 mutation is based on very few retrospective studies. We have used both retrospective and prospective analysis in 321 families with pathogenic BRCA2 mutations. Three breast cancers occurred in male first-degree relatives after family ascertainme...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2009.075176
更新日期:2010-10-01 00:00:00
abstract::The features of a child with Ehlers-Danlos syndrome type IV (EDS IV) resulting from a mutation in one COL3A1 allele were studied. The child was heterozygous for a G- to A-transition at the splice donor site of intron 41. It resulted in the splicing out of the exon 41 encoded sequence from alpha 1(III) mRNA and the del...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.28.12.840
更新日期:1991-12-01 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::Our primary objective was to estimate, by one year and five year intervals, maternal age specific risk rates for Down syndrome among whites and among other races from two different populations, metropolitan Atlanta and south west Ohio, using live birth and prenatally diagnosed cases ascertained during 1970-1989. The f...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.35.6.482
更新日期:1998-06-01 00:00:00
abstract::Aland Island eye disease (AIED) and X linked congenital stationary night blindness (CSNB) have been mapped to Xp11.3. Patients have been described with deletions of the Duchenne muscular dystrophy (DMD) gene who also had a negative electroretinogram (ERG) similar to that seen in patients with CSNB and AIED. This seems...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.32.5.348
更新日期:1995-05-01 00:00:00
abstract::The autosomal recessive limb-girdle muscular dystrophies (LGMD) represent a heterogeneous group of diseases which may be characterised by one or more autosomal loci. A gene at 15q has recently been found to be responsible for a mild form of LGMD in a group of families from the isolated island of Réunion, now classifie...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.30.5.385
更新日期:1993-05-01 00:00:00
abstract::The detailed clinical features and progress of a child with homozygous alpha 2(I) collagen deficiency are described. Clinically, the disease presents as severe progressive Sillence type III osteogenesis imperfecta. The main biochemical defect is the synthesis of an abnormal pro alpha 2(I) chain which does not associat...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.21.4.257
更新日期:1984-08-01 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::The search for the genes responsible for many complex genetic diseases is well under way and has already been successful in some cases. The study of cancer as a complex genetic disease has lagged behind other conditions, largely because of particular problems that are associated with malignant disease. Cancer also, ho...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmg.37.3.161
更新日期:2000-03-01 00:00:00
abstract::The structure of the locus encoding the major cartilage collagen gene (COL2A1) was studied in a total of 19 cases of achondroplasia. No gross rearrangements were seen. The segregation of COL2A1 was examined in three affected kindreds using restriction site and length variants as genetic markers. In two kindreds discor...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.23.1.19
更新日期:1986-02-01 00:00:00
abstract::Using DNA samples obtained from two unrelated patients, diagnosed as having familial dysalbuminaemic hyperthyroxinaemia (FDH), exons 1-14 which span the entire coding region of the human serum albumin (HSA) gene were amplified by the polymerase chain reaction. The sequence of each of the 14 DNA fragments was then dete...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.31.5.355
更新日期:1994-05-01 00:00:00
abstract::Genetic linkage studies were performed in 16 British families affected by X linked ocular albinism (XLOA) using RFLPs from the Xp22.3 region. Linkage was confirmed between the XLOA locus (OA1) and the loci DXS143 (dic56; Zmax = 15.90 at theta = 0.0, confidence interval (CI) 0-0.035), DXS85 (782; Zmax = 15.67 at theta ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.29.8.552
更新日期:1992-08-01 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::This report describes a retarded girl with strabismus, high arched palate, antimongoloid slant, low set ears, hearing loss, micrognathia, short neck, and an anteriorly displaced anus. She was found to have a de novo partial trisomy of the proximal part of the long arm of chromosome 15. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.25.4.260
更新日期:1988-04-01 00:00:00
abstract:BACKGROUND:Data on the long-term motor outcomes of genome-wide association study (GWAS)-linked Parkinson disease (PD) carriers are useful for clinical management. OBJECTIVES:To characterise the association between GWAS-linked PARK16 gene variant and disease progression in PD over a 9-year time frame. METHODS:Over a 9...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2018-105661
更新日期:2019-11-01 00:00:00
abstract:BACKGROUND:Congenital malformations involving the Müllerian ducts are observed in around 5% of infertile women. Complete aplasia of the uterus, cervix, and upper vagina, also termed Müllerian aplasia or Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, occurs with an incidence of around 1 in 4500 female births, and occur...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2010.082412
更新日期:2011-03-01 00:00:00
abstract:BACKGROUND:Holoprosencephaly (HPE), the most common malformation of the human forebrain, may result from mutations in over 12 genes. Sonic Hedgehog (SHH) was the first such gene discovered; mutations in SHH remain the most common cause of non-chromosomal HPE. The severity spectrum is wide, ranging from incompatibility ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2012-101008
更新日期:2012-07-01 00:00:00
abstract::Rubinstein-Taybi syndrome (RTS) is a well delineated multiple congenital anomaly syndrome characterised by mental retardation, broad thumbs and toes, short stature, and specific facial features. The recent localisation of the disorder to 16p13.3 and subsequent identification of a submicroscopic deletion of this region...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.34.3.203
更新日期:1997-03-01 00:00:00
abstract:BACKGROUND:Hirschsprung disease (HSCR) is a life-threatening congenital disorder in which the enteric nervous system is completely missing from the distal gut. Recent studies have shown that miR-4516 markedly inhibits cell migration, and as one of its potential targets, MAPK10 functions as a modifier for developing HSC...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2019-106615
更新日期:2020-09-01 00:00:00