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 isoenzyme and antigenic markers in 184 members of 12 APKD families. We present here the results of linkage analysis using three of these markers which have also been reported to be located on chromosome 16: phosphoglycolate phosphatase (PGP), glutamate pyruvate transaminase (GPT), and haptoglobin (HP). The results show that APKD is closely linked to the PGP locus on the short arm of chromosome 16 (16p13----p12), which is consistent with the previously reported linkage both to PGP and to the alpha globin locus. The genetic distance between PGP and APKD shows a maximum likelihood value of the recombination fraction at zero with a lod score of 5 X 5. There is no evidence of linkage between APKD and either GPT or HP. The PGP polymorphism potentially provides a useful predictive test to complement the use of alpha globin probes in genetic counselling. These tests should provide an efficient means of primary screening of family members at risk, as well as introducing the possibility of prenatal diagnosis.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Watson ML,Wright AF,Macnicol AM,Allan PL,Clayton JF,Dempster M,Jeremiah SJ,Corney G,Hopkinson DAdoi
10.1136/jmg.24.8.457subject
Has Abstractpub_date
1987-08-01 00:00:00pages
457-61issue
8eissn
0022-2593issn
1468-6244journal_volume
24pub_type
杂志文章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::Relatively few point mutations have been found in the dystrophin gene and of these only two have been associated with mosaicism. A single base insertion has been identified and quantified in a mother of two sons affected with Duchenne muscular dystrophy. It has been determined that she is a somatic mosaic with the mut...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:
更新日期:1999-04-01 00:00:00
abstract:BACKGROUND:Mutations in BRAF have recently been identified in a significant percentage of primary and metastatic cutaneous malignant melanomas. As ultraviolet (UV) exposure may play a role in the development of cutaneous melanoma lesions with BRAF mutations, BRAF mutation frequency in melanomas arising in sites protect...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2003.016667
更新日期:2004-04-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.23.3.268
更新日期:1986-06-01 00:00:00
abstract::Neurofibromatosis type 1 is one of the most common inherited disorders with an incidence of 1 in 3000. The search for NF1 mutations has been hampered by the overall size of the gene, the large number of exons, and the high mutation rate. To date, fewer than 90 mutations have been reported to the NF1 mutation analysis ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.32.9.706
更新日期:1995-09-01 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
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.23.4.363
更新日期:1986-08-01 00:00:00
abstract::Generalised recessive dystrophic epidermolysis bullosa (EB) is a severe inherited disease in which patients suffer from blistering and scarring of the skin and mucous membranes after minor mechanical trauma. Tight genetic linkage has been established to the type VII collagen gene (COL7A1) at 3p21, with no evidence of ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.32.9.749
更新日期:1995-09-01 00:00:00
abstract::A case of partial trisomy 6p is reported with a review of the various characteristics of this syndrome. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.15.6.479
更新日期:1978-12-01 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::We report a Scottish child with inv dup (15) and compare the clinical features with those of previously reported cases. Since the first report by Parker and Alfi in 1972, there have been 44 reports of patients with confirmed or suspected inv dup (15). The extra chromosomal material has been variously described, but in...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.21.3.221
更新日期:1984-06-01 00:00:00
abstract::Previous linkage studies in tuberous sclerosis have implicated three disease determining loci at 9q, 11q, and 12q. We have collated phenotypic and genotypic data on 1622 members of 128 families with tuberous sclerosis in order to evaluate simultaneously the evidence for these putative loci. Affection status in the fam...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.29.12.861
更新日期:1992-12-01 00:00:00
abstract::Mutations in the 12S rRNA gene of the mitochondrial genome are responsible for maternally inherited non-syndromic hearing loss (NSHL), and for increased susceptibility to the ototoxicity of aminoglycoside antibiotics. Among these mutations, 1555A-->G is the most prevalent in all populations tested so far. Recently, th...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2006.042440
更新日期:2006-11-01 00:00:00
abstract::A new dicentric X isochromosome i(X)(pter to q2102 to pter) of similar size to a normal X is described in a girl with gonadal dysgenesis. In this non-mosaic case with an X short arm duplication, most of the stigmata associated with Turner's syndrome were absent. This structure was compared with that of six i(Xq) and t...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.16.4.278
更新日期:1979-08-01 00:00:00
abstract::X linked spondyloepiphyseal dysplasia (SED) is caused by a growth defect of the vertebral bodies leading to characteristic changes in the vertebral bodies and a short trunk. The gene responsible for this disorder has previously been mapped to Xp22, with a maximum likelihood location between markers DXS16 and DXS92. We...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.33.5.432
更新日期:1996-05-01 00:00:00
abstract::We report three new mutations in the gene for aldolase B that are associated with hereditary fructose intolerance (HFI). Two nonsense mutations create opal termination codons: R3op (C-->T, Arg3-->ter, exon 2) was found in homozygous form in four affected members of a large consanguineous Turkish pedigree and R59op (C-...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.31.6.499
更新日期:1994-06-01 00:00:00
abstract::A female with the Weaver syndrome is reported. In addition to the characteristic manifestations of overgrowth and advanced bone age, the facies were typical, with a broad forehead, hypertelorism, a long philtrum, micrognathia, and large ears. Like most other patients with Weaver syndrome, she was developmentally delay...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.24.4.232
更新日期:1987-04-01 00:00:00
abstract::The chromosomes of a male patient who suffers from Duchenne muscular dystrophy (DMD) with a molecular deletion were examined with an improved high resolution R type replication banding technique. High resolution cytogenetic analysis of the proband revealed a deletion of the Xp21.13 subband. His healthy mother was hete...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmg.25.6.377
更新日期:1988-06-01 00:00:00
abstract::The association of maternal uniparental disomy for chromosome 7 and postnatal growth failure has been reported in four cases and suggests the presence of genomic imprinting of one or more growth related genes on chromosome 7. However, in the reported cases, the possibility of homozygosity for a recessive mutation coul...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmg.32.11.871
更新日期:1995-11-01 00:00:00
abstract::A panel of five multiallelic and highly informative dinucleotide CA repeat markers flanking the APC gene was used for presymptomatic diagnosis of familial adenomatous polyposis coli (FAP). Marker regions were amplified by PCR. DNA fragments were separated by electrophoresis in denaturing polyacrylamide gels and visual...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.31.6.442
更新日期:1994-06-01 00:00:00
abstract::Several mutations in the extracellular matrix protein matrilin-3 cause a heterogeneous disease spectrum affecting skeletal tissues. We introduced three disease causing point mutations leading to single amino acid exchanges (R116W, T298M, C299S) in matrilin-3 and expressed the corresponding proteins in primary articula...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2004.029462
更新日期:2005-10-01 00:00:00
abstract:OBJECTIVES:To evaluate the feasibility of a reduced counselling programme for predictive genetic testing for hereditary non-polyposis colorectal cancer (HNPCC) in terms of counsellees' opinions on the extent and significance of genetic counselling and need for psychological support at different phases of the testing pr...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.37.2.108
更新日期:2000-02-01 00:00:00
abstract::Non-syndromic X linked mental retardation (MRX) is a heterogeneous group of conditions in which all patients have mental retardation as the only constant phenotypic feature. We have identified a female patient with mental retardation and a balanced translocation involving chromosomes X and 21, t(X;21)(p11.2;q22.3). Ph...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.39.2.113
更新日期:2002-02-01 00:00:00
abstract:BACKGROUND:Risk prediction models are widely used in clinical genetic counselling. Despite their frequent use, the genetic risk models BOADICEA, BRCAPRO, IBIS and extended Claus model (eCLAUS), used to estimate BRCA1/2 mutation carrier probabilities, have never been comparatively evaluated in a large sample from centra...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2012-101415
更新日期:2013-06-01 00:00:00
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 si...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.34.12.1028
更新日期:1997-12-01 00:00:00
abstract:BACKGROUND:Non-syndromic isolated cleft lip with or without cleft palate (NCL/P) is a common congenital anomaly in humans, the aetiology of which is complex and associated with both genetic and environmental factors. It has been reported that maternal nutritional factors are likely to play a major role in development o...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2009.070029
更新日期:2010-12-01 00:00:00
abstract::We report three sisters and their father with a reciprocal balanced translocation, rcp t(8;11)(q24.3;p15.1) and the same abnormal phenotypes, including mental retardation, growth disturbance, and amblyopia. It is considered that the abnormal phenotypes in our four cases might result from a tiny deletion or gene mutati...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.26.10.642
更新日期:1989-10-01 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::Von Hippel-Lindau disease is an autosomal dominantly inherited familial cancer syndrome predisposing to retinal and central nervous system haemangioblastomas, renal cell carcinoma, and phaeochromocytoma. VHL disease shows variable expression and interfamilial differences in predisposition to phaeochromocytoma. In a pr...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.33.4.328
更新日期:1996-04-01 00:00:00
abstract::We report two sisters with macrocephaly, epilepsy, and severe mental retardation. The first child was a 14 year old girl born at term after a normal pregnancy, with birth weight 3600 g and occipitofrontal circumference (OFC) 36 cm (75th centile). Her head size increased markedly during the first six months of life, an...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.34.10.849
更新日期:1997-10-01 00:00:00