Abstract:
:X chromosome inactivation is widely studied using DNA sequence polymorphisms and DNA methylation as a surrogate measure of inactivation, but the correlation of methylation with inactivation is not perfect. Thus, it may be better to study sequence polymorphisms expressed in the mRNA. A recent paper reported use of a silent C/T polymorphism at nt 1311 of the G6PD cDNA, and this polymorphism was reported to have a frequency of 40% in all ethnic groups. We have screened 218 English and 50 Iranian subjects by PCR and restriction digestion; 53/218 (24%) British and 22/50 (44%) Iranian subjects were heterozygous. Thus, X inactivation studies using this polymorphism may be useful in some populations, including Iran, but much less so in the UK.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Mortazavi Y,Chopra R,Gordon-Smith EC,Rutherford TRdoi
10.1136/jmg.34.12.1028subject
Has Abstractpub_date
1997-12-01 00:00:00pages
1028-9issue
12eissn
0022-2593issn
1468-6244journal_volume
34pub_type
杂志文章abstract::Multiple vertebral segmentation defects occur in a group of conditions variably associated with anomalies of other organ systems. This report describes a female child in whom a deletion of chromosome 18 (18q22.2-->qter) is associated with congenital anomalies including multiple vertebral segmentation defects resemblin...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.34.5.414
更新日期:1997-05-01 00:00:00
abstract::A family is described in which the father and three of his seven children have microcephaly, mild to moderate mental retardation, and sparse hair. The two affected boys have generalised seizures in addition. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.27.2.127
更新日期:1990-02-01 00:00:00
abstract::The m.8993T-->C MTATP6 mutation of mitochondrial DNA (mtDNA) usually causes mitochondrial disease in childhood, but was recently described in a family with adult onset ataxia and polyneuropathy. Cytochrome c oxidase muscle histochemistry, which is the standard clinical investigation for mitochondrial disease in adults...
journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2007.052902
更新日期:2007-12-01 00:00:00
abstract::A female infant with thanatophoric dysplasia was found to have a de novo translocation involving chromosomes 1 and 10. The chromosome abnormality may represent an important clue in identifying the locus for the candidate gene responsible for this lethal skeletal dysplasia. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.32.4.293
更新日期:1995-04-01 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::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::A 6-year-old boy with speech delay and mild mental retardation (IQ 82) was found to have a complex double translocation involving four chromosomes and a total of five breakpoints, two being on the same arm. This resulted in the karyotype 46,XY,t(2;4;7)(7;8)(q14;q31;q11q22;q13). As far as the authors are aware this is ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.20.5.389
更新日期:1983-10-01 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::Genetic testing for hereditary cancer predisposition has evolved rapidly in recent years with the discovery of new genes, but there is much debate over the clinical utility of testing genes for which there are currently limited data regarding the degree of associated cancer risk. To address the discrepancies that have...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2017-105188
更新日期:2018-06-01 00:00:00
abstract:BACKGROUND:Cohen syndrome is a rare autosomal recessive inherited disorder that results from mutations of the VPS13B gene. Clinical features consist of a combination of mental retardation, facial dysmorphism, postnatal microcephaly, truncal obesity, slender extremities, joint hyperextensibility, myopia, progressive cho...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2009.075028
更新日期:2010-08-01 00:00:00
abstract::A 13 year old girl was referred with congenital microcephaly, developmental delay, a prominent nose, highly arched palate, and an apparently low set left ear. She was found to have a pericentric inversion of one chromosome 7 and a ring chromosome 8, 46,XX,inv(7) (pter----p22::q11.23----p22::q11.23----qter), r(8) (p23q...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.29.1.66
更新日期:1992-01-01 00:00:00
abstract::A family of male limited gonadotrophin independent precocious puberty was examined for activating mutation of the LH receptor. A transition of A to G in nucleotide 1733 of the human LH receptor gene was identified in all affected males and in an unaffected carrier female. The mutation was shown by identifying a new re...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.32.7.553
更新日期:1995-07-01 00:00:00
abstract:BACKGROUND:Thymine kinase 2 (TK2) is a mitochondrial matrix protein encoded in nuclear DNA and phosphorylates the pyrimidine nucleosides: thymidine and deoxycytidine. Autosomal recessive TK2 mutations cause a spectrum of disease from infantile onset to adult onset manifesting primarily as myopathy. OBJECTIVE:To perfor...
journal_title:Journal of medical genetics
pub_type: 杂志文章,多中心研究
doi:10.1136/jmedgenet-2017-105012
更新日期:2018-08-01 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: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::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::We present a male infant with hypertelorism, severe myopia and sensorineural deafness, diaphragmatic hernia, and proteinuria. This patient combines features of two distinct genetic conditions, the syndrome of diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness (M...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.35.1.70
更新日期:1998-01-01 00:00:00
abstract::A child is presented with a 49,XXXXX chromosomal constitution bringing to 12 the total number of children described with this karyotype. Comparison of this child's features with previously reported cases indicates a clinically recognisable specific pattern of malformations referred to as the penta-X syndrome. X chromo...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.17.5.392
更新日期:1980-10-01 00:00:00
abstract::21-hydroxylase deficiency is a recessively inherited disorder of steroidogenesis, resulting from mutations in the CYP21 gene. This 3.5 kb gene and a highly related CYP21P pseudogene reside on tandemly duplicated 30 kb segments of DNA in the class III HLA region, and the great majority of pathogenic mutations result fr...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:
更新日期:1999-02-01 00:00:00
abstract:BACKGROUND:Leber congenital amaurosis (LCA) is the earliest and most severe inherited retinal degeneration. Isolated forms of LCA frequently result from mutation of the CEP290 gene which is expressed in various ciliated tissues. METHODS:Seven LCA patients with CEP290 mutations were investigated to study otorhinolaryng...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2010.077883
更新日期:2010-12-01 00:00:00
abstract:BACKGROUND:22q11.2 deletion syndrome (22q11.2DS) is a multisystem disease with a prevalence of 1/4000. Variable expression of congenital and later onset features contributes to its under-recognition. Longevity in those surviving childhood is believed to be normal but data are limited. METHODS:We prospectively followed...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2008.063800
更新日期:2009-05-01 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: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::Desbuquois dysplasia is a rare autosomal recessive chondrodysplasia characterised by short stature, joint laxity, facial dysmorphism, a "Swedish key" appearance of the proximal femur, advanced carpal and tarsal bone age, and hand anomalies consisting of phalangeal dislocations and an extra ossification centre distal t...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.40.4.282
更新日期:2003-04-01 00:00:00
abstract::New techniques of DNA analysis have been applied to the prenatal diagnosis of the common haemoglobin disorders. Currently, it is possible to provide a comprehensive programme for the prevention of these conditions, although this entails the use of several different techniques including globin chain synthesis analysis,...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmg.22.6.422
更新日期:1985-12-01 00:00:00
abstract::Chromosome analysis of an infant with characteristic features of trisomy 18 is presented. The chromosome complement contained a modal count of 47 but there was only one No. 18. In addition, there were two metacentric chromosomes of different sizes. The two metacentric chromosomes were identified by G- and C-banding to...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.15.1.73
更新日期:1978-02-01 00:00:00
abstract::Adult polycystic kidney disease (APKD) is a common genetic disorder that is inherited as an autosomal dominant trait. Recent reports show that, in some families, the APKD gene shows close genetic linkage to two chromosome 16 specific genetic markers. We have been conducting a genetic linkage study using 29 polymorphic...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.24.8.457
更新日期:1987-08-01 00:00:00
abstract::We present an extended family with Li-Fraumeni syndrome characterised by gastric and breast carcinoma, glioma, sarcoma, and leukaemia. This family showed strong evidence of linkage to TP53, and three of four tumours analysed showed loss of the wild type allele. A codon 175 missense mutation was identified in exon 5 in...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.32.12.942
更新日期:1995-12-01 00:00:00
abstract:BACKGROUND:Primary hereditary microcephaly (MCPH) comprises a large group of autosomal recessive disorders mainly affecting cortical development and resulting in a congenital impairment of brain growth. Despite the identification of >25 causal genes so far, it remains a challenge to distinguish between different MCPH f...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2019-106474
更新日期:2020-06-01 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