Abstract:
:The clinical and haematological findings in 19 Liberians probably homozygous for beta thalassaemia are described. The haemoglobin patterns were similar with Hb F levels in the 30-50% range and a raised level of Hb A2 and, although the clinical severity varied widely, over half the cases were symptomless and even the more severely affected ones showed a milder picture than that found in Mediterranean races. Haemoglobin-synthesis studies carried out on three homozygotes and two heterozygotes indicated a variable degree of globin-chain imbalance. The reasons for the mild course of the disease in Liberians and other African races are discussed; it is likely that the beta-thalassaemia genes in these populations are different from those in other racial groups. It is noted that all persons in this study belong to tribes which have a low incidence of the sickle-cell gene.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Willcox MC,Weatherall DJ,Clegg JBdoi
10.1136/jmg.12.2.165keywords:
subject
Has Abstractpub_date
1975-06-01 00:00:00pages
165-73issue
2eissn
0022-2593issn
1468-6244journal_volume
12pub_type
杂志文章abstract:BACKGROUND:The non-POU domain containing octamer-binding gene (NONO) is located on chromosome Xq13.1 and encodes a member of a small family of RNA-binding and DNA-binding proteins that perform a variety of tasks involved in RNA synthesis, transcriptional regulation and DNA repair. Loss-of-function variants in NONO have...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2016-104039
更新日期:2017-01-01 00:00:00
abstract::We report two patients with suspected hereditary liability to pressure palsies. Neurophysiological studies showed a mixed axonal-demyelinating sensory-motor polyneuropathy with focal slowing of conduction velocities at the common sites of entrapment. Morphological studies on sural nerve biopsy from the proband showed ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.34.11.889
更新日期:1997-11-01 00:00:00
abstract::We report the occurrence of progressive Brown-Séquard syndrome as the presenting clinical feature of cervical spondylosis in a young patient with Stickler's syndrome. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.29.3.200
更新日期:1992-03-01 00:00:00
abstract:BACKGROUND:Succinate-CoA ligase deficiency is responsible for encephalomyopathy with mitochondrial DNA depletion and mild methylmalonic aciduria. Mutations in SUCLA2, the gene encoding a β subunit of succinate-CoA ligase, have been reported in 17 patients until now. Mutations in SUCLG1, encoding the α subunit of the en...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2009.073445
更新日期:2010-10-01 00:00:00
abstract::Cytogenetic analysis, fluorescent in situ hybridisation (FISH), and molecular amplification have been used to characterise the transfer of Yp fragments to Xp22.3 in six XX males. PCR amplification of the genes SRY, RPS4Y, ZFY, AMELY, KALY, and DAZ and of several other markers along the Y chromosome short and long arms...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.35.9.727
更新日期:1998-09-01 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::We describe a new case of postaxial acrofacial dysostosis (Miller) syndrome. This syndrome consists of mandibulofacial dysostosis, similar to that seen in Treacher Collins syndrome, and postaxial limb deficiency. The mode of inheritance remains uncertain. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmg.28.9.636
更新日期:1991-09-01 00:00:00
abstract:BACKGROUND:In total, 43 patients having short stature syndrome in 37 Yakut families with autosomal recessive prenatal and postnatal nonprogressive growth failure and facial dysmorphism but with normal intelligence have been identified. METHODS:Because Yakuts are considered as a population isolate and the disease is ra...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2007.051979
更新日期:2007-12-01 00:00:00
abstract:BACKGROUND:Usher syndrome, a devastating recessive disorder which combines hearing loss with retinitis pigmentosa, is clinically and genetically heterogeneous. Usher syndrome type 1 (USH1) is the most severe form, characterised by profound congenital hearing loss and vestibular dysfunction. OBJECTIVE:To describe an ef...
journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2006.041954
更新日期:2006-09-01 00:00:00
abstract:BACKGROUND:The genetic complexity of infantile cardiomyopathies is remarkable, and the importance of mitochondrial translation defects as a causative factor is only starting to be recognised. We investigated the genetic basis for infantile onset recessive hypertrophic cardiomyopathy in two siblings. METHODS AND RESULT...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2012-101375
更新日期:2013-03-01 00:00:00
abstract:BACKGROUND:We report here the genetic characterisation of a large five generation Chinese family with the phenotypic features of auditory neuropathy and progressive peripheral sensory neuropathy, and the genetic feature of X linked recessive inheritance. Disease onset was at adolescence (at an average age of 13 years f...
journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2005.037929
更新日期:2006-07-01 00:00:00
abstract:BACKGROUND:Graves' disease is a female preponderant autoimmune illness and the contribution of the X chromosome to its risk has long been appreciated. However, no X-linked susceptibility loci have been indentified from recent genome-wide association studies (GWAS). METHODS:We re-examined the X chromosome data from our...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2013-101595
更新日期:2013-07-01 00:00:00
abstract:BACKGROUND:The mitochondrial DNA (mDNA) 3243A>G variant is the most common pathogenic variant of the mDNA. To interpret results of clinical trials in mitochondrial disease, it is important to have a clear understanding of the natural course of disease. To obtain more insight into the disease burden and the progression ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2019-106800
更新日期:2021-01-01 00:00:00
abstract::In this paper the costs and benefits associated with DNA diagnosis of subjects who are at risk of having a child with a monogenic disease and who seek genetic counselling because of their reproductive plans are predicted under various assumptions using a mathematical model. Four monogenic diseases have been considered...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.34.9.741
更新日期:1997-09-01 00:00:00
abstract::The BglII polymorphism near the constant region of the T cell receptor beta chain (TCR c beta) has been investigated in normal controls, patients with cystic fibrosis (CF), and CF carriers. A significant increase was found in the frequency of the 10.0:9.2 kb heterozygous genotype in the CF carrier group (71%) as compa...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.26.7.431
更新日期:1989-07-01 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:BACKGROUND:The high prevalence of tobacco use in some developing nations, including Bangladesh, poses several public health challenges for these populations. Smoking behaviour is determined by genetic and environmental factors; however, the genetic determinants of smoking behaviour have not been previously examined in ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2013-102151
更新日期:2014-05-01 00:00:00
abstract::By using the genetic linkage data between the facioscapulohumeral muscular dystrophy (FSHD) gene and 57 markers on various autosomes, we have constructed an exclusion map for this disorder. The maximum likelihood location of the FSHD gene and the percentage of the excluded areas on each chromosome are presented here. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.26.8.481
更新日期:1989-08-01 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: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:BACKGROUND:Limb-girdle muscular dystrophy type R1 (LGMDR1) can be caused by recessive CAPN3 mutations accounting for the majority of LGMD. To date, no systemic evaluation has been performed to analyse the detrimental and normal mutations on CAPN3 and its hotspots. METHODS:CAPN3 variants (n=112) from a total of 124 pat...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2020-107159
更新日期:2020-09-29 00:00:00
abstract:BACKGROUND:Distal hereditary motor neuronopathies (dHMN) are a group of genetic disorders characterised by motor neuron degeneration leading to muscle weakness that are caused by mutations in various genes. HMNJ is a distinct form of the disease that has been identified in patients from the Jerash region of Jordan. Our...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2019-106108
更新日期:2020-03-01 00:00:00
abstract::Respiratory chain complex I deficiency represents a genetically heterogeneous group of diseases resulting from mutations in mitochondrial or nuclear genes. Mutations have been reported in 13 of the 14 subunits encoding the core of complex I (seven mitochondrial and six nuclear genes) and these result in Leigh or Leigh...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2003.014316
更新日期:2004-01-01 00:00:00
abstract::The development of inexpensive high throughput methods to identify individual DNA sequence differences is important to the future growth of medical genetics. This has become increasingly apparent as epidemiologists, pathologists, and clinical geneticists focus more attention on the molecular basis of complex multifact...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmg.36.10.730
更新日期:1999-10-01 00:00:00
abstract:BACKGROUND:Ethylmalonic encephalopathy (EE) is a rare autosomal recessive metabolic disorder characterised by progressive encephalopathy, recurrent petechiae, acrocyanosis and chronic diarrhoea, with a fatal outcome in early in life. METHODS:14 patients with EE were investigated for mutations in the ETHE1 gene. RESUL...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2008.058271
更新日期:2008-07-01 00:00:00
abstract:BACKGROUND:Congenital chromosome abnormalities are relatively common in our species and among structural abnormalities the most common class is balanced reciprocal translocations. Determining the parental origin of de novo balanced translocations may provide insights into how and when they arise. While there is a gener...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2009.069716
更新日期:2010-02-01 00:00:00
abstract::There are 23 females known with Duchenne or Becker muscular dystrophy (DMD or BMD) who have X;autosome translocations that disrupt the X chromosome within band p21. A female with a t(X;4)(p21;q35) translocation was identified prenatally at routine amniocentesis. At birth, she was found to have a raised CK level, consi...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.27.7.426
更新日期:1990-07-01 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:BACKGROUND:Several different missense mutations in the voltage-gated sodium channel subunit gene SCN1A have been identified in epileptic patients with benign phenotype and patients with severe phenotype. However, the reason why similar missense mutations in SCN1A result in different phenotypes has not yet been fully cl...
journal_title:Journal of medical genetics
pub_type: 杂志文章,meta分析
doi:10.1136/jmg.2008.060897
更新日期:2009-10-01 00:00:00
abstract::A large tuberous sclerosis multigenerational family segregating with markers on chromosome 9q from the TSC1 region was studied with a new highly polymorphic marker (designated A6) from the region. A critical affected person showed recombination with the marker, eliminating approximately 100 kilobases from the telomeri...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.33.7.559
更新日期:1996-07-01 00:00:00