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 apolipoprotein B-100 (FDB). To date none of the LDLR mutations causing FH in German patients has been identified and it is therefore not yet possible to use DNA technology for direct diagnosis. However, indirect molecular diagnosis based on genetic linkage of common restriction fragment length polymorphisms (RFLPs) of the LDLR gene can be used for diagnosis in family studies. Patients with FDB were excluded from this study. Genotypes and haplotypes of four RFLPs (StuI, ApalI 5', PvuII, and NcoI) were determined in a total of 164 independent alleles from 31 pedigrees that included 222 subjects. Allele frequencies and four RFLP haplotype distribution did not differ significantly from those reported in other populations. The applicability of DNA diagnosis in our lipid clinic is comparable with the estimation from calculations on frequencies and heterozygosities of RFLPs, as predicted using these four RFLPs before. On the basis of cosegregation of haplotypes and normo- or hypercholesterolaemia in one or more sibs or offspring, defective and normal LDLR gene alleles could be distinguished in 42 of 58 heterozygous FH patients who were heterozygous for at least one RFLP. In 97 of 134 (72%) children of these 42 subjects, diagnosis of FH could be carried out unambiguously.(ABSTRACT TRUNCATED AT 250 WORDS)
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Schuster H,Rauh G,Gerl C,Keller C,Wolfram G,Zöllner Ndoi
10.1136/jmg.28.12.865subject
Has Abstractpub_date
1991-12-01 00:00:00pages
865-70issue
12eissn
0022-2593issn
1468-6244journal_volume
28pub_type
杂志文章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::Although a seasonal trend in the birth distribution has been reported in cystic fibrosis (CF), this finding is still very controversial. The birth distribution of 113 patients with cystic fibrosis born in Saguenay-Lac-St-Jean (complete ascertainment) was analysed using two different statistical methods. Our results sh...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.28.9.613
更新日期:1991-09-01 00:00:00
abstract::The results of the present investigation have failed to confirm the suggestion that there is a significant increase in the proportion of echinocytes in preparation of fresh erythrocytes in patients with Duchenne muscular dystrophy and heterozygous carriers of this disorder. ...
journal_title:Journal of medical genetics
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doi:10.1136/jmg.14.4.276
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abstract::Cleidocranial dysplasia (CCD) (MIM 119600) is an autosomal dominant skeletal dysplasia characterised by abnormal clavicles, patent sutures and fontanelles, supernumerary teeth, short stature, and a variety of other skeletal changes. The disease gene has been mapped to chromosome 6p21 within a region containing CBFA1, ...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:
更新日期:1999-03-01 00:00:00
abstract::The chemical and physical properties of haemoglobin S derived from homozygotes for this haemoglobin in Sicily were examined, as well as some erythrocytic characteristics. Sicilian Hb S was identical to that found in USA black patients in electrophoretic mobility on both starch and citrate agar media, solubility, mecha...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.17.1.34
更新日期:1980-02-01 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:BACKGROUND:Sonic hedgehog (SHH) plays an important role in defining the anterior-posterior axis in the developing limbs. A highly conserved non-coding sequence about approximately 1 Mb upstream from the sonic hedgehog gene (SHH) was shown to be a long range regulator for SHH expression in the limb bud. Point mutations ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2007.055699
更新日期:2008-06-01 00:00:00
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::This is a study of 138 index patients with retinitis pigmentosa (RP) and their families, in which the selection of index patients was solely on the basis of their residence in Birmingham. Clinical analysis showed that severe disease was as likely to indicate dominant or non-genetic RP as to indicate recessive disease,...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.21.6.421
更新日期:1984-12-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2008.062463
更新日期:2009-02-01 00:00:00
abstract:BACKGROUND:The genetic causes of the majority of male and female infertility caused by human non-obstructive azoospermia (NOA) and premature ovarian insufficiency (POI) with meiotic arrest are unknown. OBJECTIVE:To identify the genetic cause of NOA and POI in two affected members from a consanguineous Chinese family. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2017-104992
更新日期:2018-03-01 00:00:00
abstract::A Bedouin infant born to consanguineous parents and grandparents is reported. She had Müllerian aplasia and the phenotypic features of the limb/pelvis-hypoplasia/aplasia syndrome (MIM 276820). Phenotypic variability of this newly recognised syndrome is briefly discussed. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmg.30.1.62
更新日期:1993-01-01 00:00:00
abstract::Germline mutations in highly penetrant autosomal dominant genes explain about 5% of all breast cancer, and heritable mutations in the BRCA1 breast and ovarian cancer susceptibility gene account for 2-3% of breast cancer in the general population. Nevertheless, the presence of such mutations is highly predictive of dis...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.35.2.116
更新日期:1998-02-01 00:00:00
abstract:INTRODUCTION AND METHODS:Since the concept of the "two hit hypothesis" was introduced over 20 years ago, a wealth of genetic data has accumulated on the mutations found at tumour suppressor loci. Perhaps surprisingly, these data conceal large gaps in our knowledge which genetic and functional studies are beginning to u...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmg.38.2.81
更新日期:2001-02-01 00:00:00
abstract:OBJECTIVE:Deficiency of α-galactosidase A (αGal-A) in Fabry disease leads to the accumulation mainly of globotriaosylceramide (GL3) in multiple renal cell types. Glomerular podocytes are relatively resistant to clearance of GL3 inclusions by enzyme replacement therapy (ERT). Migalastat, an orally bioavailable small mol...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2017-104826
更新日期:2017-11-01 00:00:00
abstract::A common missense mutation in the methylenetetrahydrofolate reductase (MTHFR) gene, a C to T substitution at nucleotide 677, is responsible for reduced MTHFR activity and associated with modestly increased plasma homocysteine concentrations. Since underlying maternal vascular disease increases the risk of pre-eclampsi...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.34.6.525
更新日期:1997-06-01 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:BACKGROUND:Structural variants (SVs) affecting non-coding cis-regulatory elements are a common cause of congenital limb malformation. Yet, the functional interpretation of these non-coding variants remains challenging. The human Liebenberg syndrome is characterised by a partial transformation of the arms into legs and ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2018-105793
更新日期:2019-04-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2020-107503
更新日期:2020-12-21 00:00:00
abstract:BACKGROUND:Congenital hereditary non-progressive hypoplasia of the cerebellum is a rare condition, frequently associated with other neuropathology such as lissencephaly. Clinically, the condition is associated with variable degrees of mental retardation, microcephaly, seizures, and movement disorders due to ataxia. In ...
journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2005.040030
更新日期:2006-05-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2006.043059
更新日期:2007-01-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.23.2.185
更新日期:1986-04-01 00:00:00
abstract:BACKGROUND:Schneckenbecken dysplasia (SBD) is an autosomal recessive lethal skeletal dysplasia that is classified into the severe spondylodysplastic dysplasias (SSDD) group in the international nosology for skeletal dysplasias. The radiological hallmark of SBD is the snail-like configuration of the hypoplastic iliac bo...
journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2008.065201
更新日期:2009-08-01 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:BACKGROUND:Agenesis of corpus callosum has been associated with several defects of the mitochondrial respiratory chain and the citric acid cycle. We now report the results of the biochemical and molecular studies of a patient with severe neurodevelopmental disease manifesting by agenesis of corpus callosum and optic ne...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2012-101485
更新日期:2013-04-01 00:00:00
abstract::Intelligence levels and intelligence profiles were investigated in 52 members of a large family with the fragile X syndrome. The mental abilities were evaluated by the three Wechsler intelligence tests (WAIS, WISC-R, and WPPSI). Chromosomal and psychological data were then compared. In 22 non-retarded fra(X) negative ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.24.1.32
更新日期:1987-01-01 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:BACKGROUND:Warfarin is a mainstay of therapy for conditions associated with an increased risk of thromboembolic events. However, the use of this common agent is fraught with complications and little is known regarding inter-individual variation in warfarin response. OBJECTIVE:We tested for association between single n...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2005.040410
更新日期:2006-09-01 00:00:00
abstract:BACKGROUND:Lynch syndrome, an autosomal-dominant disorder characterised by high colorectal and endometrial cancer risks, is caused by inherited mutations in DNA mismatch repair (MMR) genes. Mutations fully abrogating gene function are unambiguously disease causing. However, missense mutations often have unknown functio...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2013-101987
更新日期:2014-04-01 00:00:00
abstract::The rare bone thickening disease osteopetrosis occurs in various forms, one of which is accompanied by renal tubular acidosis (RTA), and is known as Guibaud-Vainsel syndrome or marble brain disease. Clinical manifestations of this autosomal recessive syndrome comprise increased bone density, growth failure, intracereb...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.40.2.115
更新日期:2003-02-01 00:00:00