Abstract:
:Human chromosome 9 with a pericentric inversion involving the qh region is considered normal. It has probably evolved through breakage and reunion and is retained through mendelian inheritance without any apparent phenotypic consequences. Fluorescent in situ hybridisation (FISH) technique using alpha, beta, and satellite III DNA probes showed that the breakpoints are variable and can be localised in the alpha or in the satellite III and beta DNA regions or both. Three types of inversions are proposed which appear similar by CBG banding: pericentric inversions with two alphoid, one beta, and one satellite III hybridisation signals were classified as type A. Type B were those with two beta, one alpha, and one satellite III hybridisation signals, while type C was complex, and most likely involved two inversions, since two separate hybridisation signals were detected in each of the alphoid, beta satellite, and satellite III DNA regions. Based on eight cases, type A is likely to be the most frequent, but the frequencies, which at present appear non-random for these different types of inversions in the population, can only be estimated by studying a larger sample size. Inversion heteromorphisms may promote reshuffling of tandem arrays of DNA repeat sequences, thereby giving rise to new heteromorphic domains. Alternatively, the repetitive nature of the sequences lends to the structural variations observed within the inv(9) chromosomes (or any other abnormal chromosome that is the result of recombination between, or breakage within, repetitive DNA).
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Ramesh KH,Verma RSdoi
10.1136/jmg.33.5.395subject
Has Abstractpub_date
1996-05-01 00:00:00pages
395-8issue
5eissn
0022-2593issn
1468-6244journal_volume
33pub_type
杂志文章abstract:BACKGROUND:Psoriasis is an immune-mediated skin disorder that is inherited as a multifactorial trait. Linkage analyses have clearly mapped a primary disease susceptibility locus to the major histocompatibility complex (MHC) region on chromosome 6p21. More recently, whole-genome association studies have identified two n...
journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2007.053595
更新日期:2008-02-01 00:00:00
abstract::A family study of hidradenitis suppurativa was undertaken based on 26 subjects with the disease. The probands were obtained from Hospital Activity Analysis (HAA) records for a three year period (1980 to 1983) and by direct referral from hospital specialists over a six month period (1983 to 1984). Family pedigree infor...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.22.5.367
更新日期:1985-10-01 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::A family with an insertional type of chromosome rearrangement involving chromosomes 7 and 13 is reported. An interstitial deletion of a segment of chromosome 7 (7q32 leads to 34) had been inserted into the long arm of chromosome 13 at breakpoint q32. Segregation of this chromosome rearrangement gave rise to three subj...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.16.6.461
更新日期:1979-12-01 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::We present clinical data on 558 patients with deletions within the DiGeorge syndrome critical region of chromosome 22q11. Twenty-eight percent of the cases where parents had been tested had inherited deletions, with a marked excess of maternally inherited deletions (maternal 61, paternal 18). Eight percent of the pati...
journal_title:Journal of medical genetics
pub_type: 杂志文章,多中心研究
doi:10.1136/jmg.34.10.798
更新日期:1997-10-01 00:00:00
abstract:BACKGROUND:Multiple morphological abnormalities of the sperm flagella (MMAF) is a kind of severe teratozoospermia. Patients with the MMAF phenotype are infertile and present aberrant spermatozoa with absent, short, coiled, bent and/or irregular flagella. Mutations in several genes can explain approximately 30%-50% of M...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2018-105952
更新日期:2019-10-01 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::Cockayne's syndrome (CS) is a rare autosomal recessive disorder with dwarfism, mental retardation, and otherwise clinically heterogeneous features. In cultured CS fibroblasts, the failure of RNA synthesis to recover to normal rates after UV-C irradiation provides a useful and relatively simple diagnostic test. We have...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.30.8.679
更新日期:1993-08-01 00:00:00
abstract::Evidence for linkage has been sought, in four pedigrees with Crouzon syndrome, between polymorphic markers known to be linked to the Saethre-Chotzen locus on 7p and another form of autosomal dominant craniosynostosis on 5q. The data we present exclude Crouzon syndrome as an allelic variant at either of these known cra...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.31.3.219
更新日期:1994-03-01 00:00:00
abstract::An 18 month old girl with dysmorphic features, severe developmental delay, multiple strawberry naevi, and capillary naevi is described. No previous report of a similar association of features has been identified. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.30.10.883
更新日期:1993-10-01 00:00:00
abstract::Deficiency of iduronate-2-sulphatase (IDS) results in the X linked recessive lysosomal storage disorder Hunter syndrome. Determination of carrier status in families affected by this disorder has been performed using a variety of enzymatic tests. None of these tests has proved to be 100% effective at identifying carrie...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.35.8.646
更新日期:1998-08-01 00:00:00
abstract::A method is presented of calculating recurrence risks at a disease locus where there is information from flanking marker loci. This method uses output from the computer programme LIPED. Information from carrier detection tests and mutation at the disease locus can be taken into account in certain pedigrees. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.22.1.12
更新日期:1985-02-01 00:00:00
abstract:BACKGROUND:Spontaneous read-through of a premature termination codon (PTC) has so far not been observed in patients carrying nonsense mutations. This report describes a patient with junctional epidermolysis bullosa who was expected to die because of compound heterozygous nonsense mutations in the gene LAMA3 (R943X/R115...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2011.089615
更新日期:2011-09-01 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 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::A girl with mild geroderma osteodysplastica is reported in order to raise the profile of this autosomal recessive condition which may be underdiagnosed. The important signs of this syndrome include a droopy, jowly face with a degree of malar hypoplasia and mandibular prognathism, lax, but non-hyperelastic skin, most m...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.25.12.854
更新日期:1988-12-01 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::DIDMOAD is usually considered an autosomal recessive condition, with wide phenotypic variation, but the possibility of mitochondrial mutations occurring in this condition has been considered. A 19 year old man presented with long standing diabetes mellitus, optic atrophy, and grand mal seizures. Further investigations...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmg.31.4.328
更新日期:1994-04-01 00:00:00
abstract:CONTEXT:In hereditary cancer syndrome families with an identified cancer associated mutation, mutation testing changes the carrier risk status of the tested person and may change the carrier risk status of relatives. OBJECTIVE:This study aimed to describe the change in the distribution of carrier risk status resulting...
journal_title:Journal of medical genetics
pub_type: 杂志文章,多中心研究
doi:10.1136/jmg.40.8.591
更新日期:2003-08-01 00:00:00
abstract::In the majority of patients, familial hypercholesterolaemia (FH) is caused by different mutations affecting the well defined low density lipoprotein receptor (LDLR) gene. However, 3% of patients in Munich with a clinical diagnosis of FH have a particular mutation in the apolipoprotein B gene causing familial defective...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.28.12.865
更新日期:1991-12-01 00:00:00
abstract::The development of some endocrine tumours, such as medullary thyroid carcinomas, phaeochromocytomas, anterior pituitary adenomas, and parathyroid adenomas involve a putative tumour suppressor gene located on chromosome 1p32-pter, a region that represents 111 cM. In order to refine the location of this gene, 93 endocri...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.34.8.617
更新日期:1997-08-01 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::World wide data on presymptomatic testing for Huntington's disease using closely linked DNA markers show that 1479 persons at risk received completed test results up to the end of 1991. Testing has been carried out in 19 countries, with at least 88 centres involved, and numbers have levelled off after a peak in 1990. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.30.12.1020
更新日期:1993-12-01 00:00:00
abstract::Cowden syndrome, or the multiple hamartoma syndrome, is a familial cancer syndrome with involvement of various organ systems. Inheritance is autosomal dominant with variable expression. Progressive macrocephaly, scrotal tongue, and mild to moderate mental retardation are important signs indicating the syndrome in youn...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmg.32.2.117
更新日期:1995-02-01 00:00:00
abstract::Familial adenomatous polyposis (FAP) is characterised by hundreds of colorectal adenomas. Endocrine neoplasms have occasionally been reported, as have gastric polyps, which are usually hamartomatous in the fundus of the stomach and adenomatous in the antrum. A 57 year old man with colorectal, gastric, and periampullar...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:
更新日期:1999-01-01 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
abstract::An estimated 15-50% of the population experiences pain at any given time, at great personal and societal cost. Pain is the most common reason patients seek medical attention, and there is a high degree of individual variability in reporting the incidence and severity of symptoms. Research suggests that pain sensitivit...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmedgenet-2011-100386
更新日期:2012-01-01 00:00:00
abstract:BACKGROUND:The clinical phenotype of CDH1 pathogenic variant carriers has mostly been studied in families that fulfil criteria of hereditary diffuse gastric cancer (HDGC). We aimed at determining cancer phenotype and cancer risk estimation among families with CDH1 pathogenic variants not selected by HDGC clinical crite...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2019-105991
更新日期:2019-12-01 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