摘要:

The expression of folate sensitive fragile sites (FS) was assessed in cord blood lymphocyte cultures obtained from 790 newborns (NB) and in peripheral blood lymphocyte cultures from 326 institutionalized mentally retarded residents (MR). The mean rate of expression of common FS and the occurrence of rare FS was significantly higher in the MR population. Age, sex and history of chronic medication use did not appear to influence common FS expression in the MR population. 3/790 (0.38%) NB and 5/326 (1.53%) MR exhibited rare autosomal folate sensitive FS, a 4‐fold difference in incidence (P = 0.009, Poisson test). Four of the five MR who expressed rare FS were considered to have idiopathic MR (4/179 or 2.2%). The occurrence of rare FS in 1/147 (0.68%) MR with known etiology is not significantly different from the frequency of occurrence in the NB population (P = 0.428, Poisson test). In this population, rare FS appear to be overrepresented in the idiopathic etiology MR grou

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1990.tb03577.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

The osteopetroses are a heterogeneous group of disorders characterised by generalised bony sclerosis. The autosomal dominant form usually has a “benign” prognosis, in contrast to the “malignant” course of the autosomal recessive variety. In this paper we describe a kindred in which the phenotypic spectrum varied from an asymptomatic condition in adults to a severely affected infant, presenting with anaemia, hepatosplenomegaly, hydrocephalus and blindness. The findings in this family are reported and discussed to elucidate further the possible genetic heterogeneity in autosomal dominant osteop

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1990.tb03578.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

To investigate the association of apolipoprotein (APO) E4 and hypercholesterolemia in children, we studied the APOE phenotypes of 51 school‐age children with hypercholesterolemia and of 51 age, sex and obesity index‐matched controls with normocholesterolemia by two‐dimensional gel electrophoresis. APOE4 was present in 21 of 51 hypercholesterolemic children (41.2%), and in nine of 51 control subjects (17.6%). The difference was significant (p<0.01). This finding indicates that APOE4 is associated with hypercholesterolemia in chi

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1990.tb03579.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

Analyzing a panel of 94 phenylketonuria (PKU) alleles for mutations within the phenylalanine hydroxylase (PAH) gene, we identified a G to A transition in exon 7 corresponding to nucleotide 957 in the cDNA sequence. This nucleotide substitution generates a new Alu I site (…GTGGCT…→…GTAGCT…), but does not change the encoded amino acid (GTG245→GTA245= VAL). In our panel of patients the Alu I polymorphism is exclusively associated with haplotypes 4 (mutant or normal alleles) and 3, 16, 17, 28 (norm

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1990.tb03580.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

Allogeneic bone marrow transplantation was carried out in an 81‐day‐old Portuguese water dog with GM1 gangliosidosis using a DLA identical sibling as donor. Engraftment was complete and β‐galactosidase activity in leukocytes of the transplanted dog were similar to those in the donor. Over the next 2.5 months neurological deterioration in the transplanted dog was similar to that in untreated dogs with GM1 gangliosidosis. Cerebral ganglioside GM1 concentrations were not diminished by bone marrow transplantation and cerebral β‐galactosidase activity was negligible. We conclude that allogeneic bone marrow transplantation early in life is ineffective in canine GM1 gangl

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1990.tb03581.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

Linkage analysis in a family with X‐linked myopia gave a positive LOD score (z=4.8 at theta = 0) for linkage to F8C. These results suggest a provisional assignment for the locus of this syndrome to the distal part of the X chromosome at Xq28. Based on the clinical and genetic evidence, a redefinition of this clinical syndrome, named Bornholm Eye Disease (BED), was made to include amblyopia, myopia, and deuteranopia. Facultative signs were optic nerve hypoplasia, reduced electroretinographic flicker function, and non‐specific retinal pigment abnormalit

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1990.tb03582.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

A restriction fragment length polymorphism (RFLP) at the low density lipoprotein receptor (LDLR) locus, detectable with the restriction enzyme PvuII has been studied in a second series of Norwegian subjects, believed to be representative of the general population. The results confirm the association of normal alleles at the LDLR locus with differences in age‐ and sex‐corrected total and LDL cholesterol. A gene identified as one of the alleles in this RFLP appears to eliminate the effect of the apolipoprotein E4 (apoE4) gene on cholesterol (or its allele must be present for the apoE4 effect on lipid level to manifest itself). The findings in this series substantiate previous indications that normal alleles are of importance in the control of LDLR activity and that normal LDLR alleles contribute to the population variation in cholesterol. Finally, they confirm that an interaction between LDLR and apoE genes contributes to the population variation in total and LDL choleste

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1990.tb03583.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

Studies from the last decade on factors influencing reproductive planning after genetic counselling were reviewed. Increased possibilities of DNA‐analysis and prenatal diagnosis might have brought about a shift in the paramountcy of factors influencing reproductive planning after genetic counselling. In contrast to the literature in the seventies, the magnitude of the genetic risk was no longer found to be one of the decisive factors in postcounselling reproductive planning. Instead, the interpretation of the risk as high or low and the desire to have children appeared to be paramount. The impact of new developments in DNA‐analysis in prenatal diagnosis and presymptomatic testing will be an important subject for future studies on factors influencing reproductive plann

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1990.tb03584.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

A 2 1/2‐year‐old boy born of Jewish Moroccan parents is reported with physical findings of wrinkled skin on the dorsum of the hands and feet, with poor skin elasticity, syndactyly, mild kyphosis and poor muscle tone, the diagnosis being the wrinkly skin syndrome. All reported cases of this heritable disorder of connective tissue are reviewed and discussed in terms of genetics, ethnic clustering and differential diagno

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1990.tb03585.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

A 17‐month‐old boy is reported with 46,XY,del(4) (p15.2p15.32). He had mild psychomotor retardation and multiple minor anomalies, without growth retardation or microcephaly, which differs from the classical 4p‐ syndrome (Wolf‐Hirschhorn syndrome). The activity of dihydropteridine reductase, a genetic marker for chromosome 4p15.3, was half that in a normal

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1990.tb03586.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY