Abstract:
:Favism is a severe, acute haemolytic anaemia which occurs in about 20% of G6PD deficient subjects after ingestion of fava beans. Since not all G6PD deficient subjects are sensitive to fava beans, the possibility has been suggested that extra erythrocytic factors may play an important role in the susceptibility to haemolytic favism. To test the hypothesis that an autosomal enzyme is involved in the pathogenesis of favism, we carried out a beta-glucosidase assay in small intestine biopsies from normal subjects and G6PD deficient subjects with or without favism. Beta-glucosidase might be involved in the absorption and metabolism of fava beans and a quantitative polymorphism could explain the different susceptibility to fava beans of G6PD deficient subjects. Our observation showed no consistent quantitative polymorphism of beta-glucosidase in the subjects examined.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Mareni C,Repetto L,Forteleoni G,Meloni T,Gaetani GFdoi
10.1136/jmg.21.4.278subject
Has Abstractpub_date
1984-08-01 00:00:00pages
278-80issue
4eissn
0022-2593issn
1468-6244journal_volume
21pub_type
杂志文章abstract:BACKGROUND:Results of a Scandinavian genome scan in type 1 diabetes mellitus (T1D) have recently been reported. Among the novel, not previously reported chromosomal regions showing linkage to T1D was a region on chromosome 21. OBJECTIVE:To fine map this region on chromosome 21. METHODS AND RESULTS:The linked region w...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2004.022004
更新日期:2005-01-01 00:00:00
abstract::A study of the ethnic distribution of families attending genetic clinics in Birmingham has shown a deficit of Afro-Caribbean and Pakistani families. The former may be because of a deficiency of autosomal recessive diseases other than sickle cell disease, but the numbers are too small to be certain of this. The deficit...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.33.1.56
更新日期:1996-01-01 00:00:00
abstract::In type I familial amyloid polyneuropathy (FAP) caused by a variant Met30-transthyretin (TTR), genetic anticipation has been reported. To determine whether anticipation of the disease is a true biological phenomenon or the result of ascertainment bias, we compared age at onset of the affected child with that of the af...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.35.1.23
更新日期:1998-01-01 00:00:00
abstract:BACKGROUND:Enzyme deficiencies of the oxidative phosphorylation (OXPHOS) system may be caused by mutations in the mitochondrial DNA (mtDNA) or in the nuclear DNA. OBJECTIVE:To analyse the sequences of the mtDNA coding region in 25 patients with OXPHOS system deficiency to identify the underlying genetic defect. RESUL...
journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2006.042168
更新日期:2006-11-01 00:00:00
abstract::The inheritance of restriction fragment length polymorphisms for two fibrillar collagen genes (COL1A2 and COL3A1) has been studied in a large Marfan syndrome kindred. We are able to show discordant segregation between the Marfan syndrome and each of the two collagen gene markers. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.24.3.148
更新日期:1987-03-01 00:00:00
abstract::Pericentric inversions in chromosome 2 were traced in 2 unrelated North American black families. In the case of inv(2)(p13q11) no effect on reproduction was observed. In the case of inv(2)(p11q13) some reproductive abnormalities were noted which might be related to the inversion. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.15.5.388
更新日期:1978-10-01 00:00:00
abstract:BACKGROUND:A variety of abnormalities have been demonstrated at chromosome 11p15 in individuals with overgrowth and growth retardation. The identification of these abnormalities is clinically important but often technically difficult. Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) is a ...
journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2007.053207
更新日期:2008-02-01 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:Alport syndrome is a clinically heterogeneous, progressive nephropathy caused by mutations in collagen IV genes, namely COL4A3 and COL4A4 on chromosome 2 and COL4A5 on chromosome X. The wide phenotypic variability and the presence of incomplete penetrance suggest that a simple Mendelian model cannot complete...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2014-102822
更新日期:2015-03-01 00:00:00
abstract:BACKGROUND:Sedaghatian-type spondylometaphyseal dysplasia (SSMD) is a neonatal lethal form of spondylometaphyseal dysplasia characterised by severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, cardiac conduction defects, and central nervous system abnormalities. As part of the FORGE Canada Con...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2013-102218
更新日期:2014-07-01 00:00:00
abstract:BACKGROUND:Familial haemophagocytic lymphohistiocytosis (FHL) has an autosomal recessive mode of inheritance and consists of at least three subtypes. FHL2 subtype with perforin (PRF1) mutation accounts for 30% of all FHL cases, while FHL with MUNC13-4 mutation was recently identified and designated as FHL3 subtype. OB...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2004.021121
更新日期:2004-10-01 00:00:00
abstract::Linkage of the anonymous marker D3S2 at 3p21 has been shown in three British families with dominant dystrophic epidermolysis bullosa with a combined lod score of 6.75 at theta = 0. This locus is close to the collagen type VII locus implying that abnormalities of this gene cause dominant dystrophic epidermolysis bullos...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.29.6.381
更新日期:1992-06-01 00:00:00
abstract::A child with the Tel Hashomer camptodactyly syndrome is reported. Although muscle weakness and hypoplasia are reported features of this syndrome, further investigation of muscle function has not previously been carried out. We report a raised creatine kinase and an abnormal electromyogram and muscle biopsy in this syn...
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::A family is described in which 16 individuals in 3 generations have Charcot-Marie-Tooth disease. At least 6 family members also have the naevoid basal cell carcinoma syndrome. In addition, 1 subject with both disorders has 2 young daughters with the naevoid basal cell carcinoma syndrome. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.15.4.288
更新日期:1978-08-01 00:00:00
abstract::The frequency of chromosome aberrations in the lymphocytes of three established heterozygotes for the Bloom's syndrome gene (ages 67, 57, 46) was compared to that in controls (ages 68, 67, 61, 46, 34). The main part of the study was done on coded slides. No difference was found between the heterozygotes and the contro...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.16.3.219
更新日期:1979-06-01 00:00:00
abstract::Two cases are reported of patients with deletions of chromosome 5q. Both have familial adenomatous polyposis (FAP) and mild mental retardation. In both, macroscopic polyposis was confined to the proximal colon in adult life (in their thirties) although microscopic adenomatosis was shown in the more distal colon with o...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.30.5.369
更新日期:1993-05-01 00:00:00
abstract::A majority of cystic fibrosis (CF) genes (70 to 75%) share a single mutation, but the remaining 25 to 30% of defects are accounted for by more than 20 different mutations. One of the less frequent mutations, G551D, has been identified in the CF genes of two sibs and one unrelated adult patient. The adult patient also ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.28.1.34
更新日期:1991-01-01 00:00:00
abstract::A 2-year-old boy with mental and growth retardation is presented; he has a 46,XY,r(10)(p15q26) chromosome complement. Five previously reported cases of ring chromosome 10 were reviewed and compared with the present case in an attempt to delineate a clinical syndrome. Since the first description, identified by Giemsa b...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.20.2.142
更新日期:1983-04-01 00:00:00
abstract::Floating-Harbor syndrome (FHS) is a rare human disease characterised by delayed bone mineralisation and growth deficiency, often associated with mental retardation and skeletal and craniofacial abnormalities. FHS was first described at Boston's Floating Hospital 42 years ago, but the causative gene, called Srcap, was ...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmedgenet-2016-103842
更新日期:2016-12-01 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::We report a new disorder that we have called genochondromatosis. Four patients from the same family with the characteristic localisation of chondromatosis (clavicle, upper end of humerus, and lower end of femur) were investigated. The favourable course, the dominant transmission, and previous publication of similar ca...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.28.7.485
更新日期:1991-07-01 00:00:00
abstract:BACKGROUND:Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's disease, is an X-linked motor neuron disorder caused by an expanded CAG repeat in the gene coding for the androgen receptor (AR). The range and significance of reduced penetrance alleles in SBMA has not been fully determined to date. We prese...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2020-106963
更新日期:2020-06-22 00:00:00
abstract::A malformed female infant is described. In addition to cardiac, renal, and skeletal (rib) anomalies, severe intrauterine growth retardation and distinct facial dysmorphism were present. The question is raised whether this child represents a new syndrome. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.30.6.525
更新日期:1993-06-01 00:00:00
abstract::A family is described in which 2 sibs had similar congenital abnormalities. Chromosome investigation of the mother and another child disclosed they were carriers of a translocation t(18;21)(q21;q22). The karyotype of one of the abnormal infants was determined and was found to be consistent with partial trisomy 18,46,X...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.15.2.148
更新日期:1978-04-01 00:00:00
abstract:BACKGROUND:Constitutional mismatch repair deficiency (CMMRD) syndrome is a childhood cancer predisposition syndrome involving biallelic germline mutations of MMR genes, poorly recognised by clinicians so far. METHODS:Retrospective review of all 31 patients with CMMRD diagnosed in French genetics laboratories in order ...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmedgenet-2015-103299
更新日期:2015-11-01 00:00:00
abstract::A 2-year-old boy with macrocephaly, communicating hydrocephalus, and mild hepatosplenomegaly was found to have mild Hunter syndrome (MPS II). Establishment of the latter diagnosis was complicated by the paucity of obvious physical findings because of the patient's young age and his ethnic origin. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.14.6.445
更新日期:1977-12-01 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:OBJECTIVE:To establish national clinical guidelines and integrated care pathways for five conditions (tuberous sclerosis (TS), Huntington's disease (HD), myotonic dystrophy (MD), neurofibromatosis type 1 (NF1), and Marfan syndrome (MS)) and audit their use in Scotland. DESIGN:Systematic review of published reports fol...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.37.9.684
更新日期:2000-09-01 00:00:00
abstract::We have evaluated a patient with Jacobsen syndrome. The patient presented with growth retardation, hypotonia, trigonocephaly, telecanthus, downward slanting palpebral fissures, bilateral inferior colobomas (of the iris, choroid, and retina), hydrocephalus, central nervous system (CNS) abnormalities, and an endocardial...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmg.33.9.772
更新日期:1996-09-01 00:00:00
abstract::Despite increased expenditure, productivity of the pharmaceutical industry has decreased and currently 90% of developed molecules entering phase II and phase III clinical trials fail to gain regulatory approval. Most of these failures are due to lack of therapeutic efficacy rather than lack of safety, suggesting that ...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmedgenet-2014-102438
更新日期:2015-02-01 00:00:00