摘要:

Of the many methods which have been devised to detect point mutations, we use reverse dot blot for β‐thalassemia in our laboratory. In any mutation detection program, rare or new mutations outside of a laboratory's repertoire will be encountered. Denaturing gradient gel electrophoresis (DGGE) is one of the methods used to localize such mutations. We describe the DGGE electrophoresis pattern of eight common Mediterranean β‐thalassemia mutations and the βsand βcmutations, and the definition of two rare mutations outside of these ten. We believe that DGGE is a useful adjunct for mutation de

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb04145.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

In this report we describe two siblings, a 15‐year‐old female and her 8‐year‐old brother, with spastic paraparesis, macrocephaly and distinct craniofacial appearance, as an apparent autosomal recessive subtype of complicated spastic par

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb04146.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

We assessed the familial occurrence of Hirschsprung's disease from 224 probands born in Denmark after 1959. Probands who were still alive received a mailed questionnaire, and medical reports for the probands and their relatives with suspected Hirschsprung's disease were examined. The diagnosis of Hirschsprung's disease required a histologically verified biopsy or surgical colonic specimens, and exclusion of a secondary causes for Hirschsprung's disease. Familial occurrence was seen in 11 families. Ten first‐degree, two third‐degree and one fifth‐degree relatives had Hirschsprung's disease. Both short segment agangliosis (the sigmoid colon or below) and long segment agangliosis (above the sigmoid colon) occurred in five of the 11 families, implying that the etiology of Hirschsprung's disease with short and long segment agangliosis is the same. Compared with the general population, the first‐degree relatives of the 224 probands had a minimum of a 93‐fold increased risk of Hirschsprung's disease. This strongly suggests that genetic factors play a role in Hirschsprung

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb04147.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

X‐linked progressive cone dystrophy (XLPCD) is characterized by progressive macular atrophy, abnormal colour vision, reduced cone responses in ERG, and reduced visual acuity. XLPCD may be genetically heterogeneous. Therefore, carrier detections by DNA analysis may only be carried out in those families in which the position of the gene locus can be clearly established. Here, we describe the first DNA carrier detections in XLPC

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb04148.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

We report here the findings of a linkage analysis, involving numerous markers from the human X chromosome, in an attempt to localise a putative gene causing apparent X‐linked spina bifida and anencephaly (SBA) in a large Icelandic pedigree. Two‐point linkage analysis was performed using markers from 62 informative loci in this family. Although small positive lod scores were found at a number of these loci, none reached the significance level for linkage. Haplotypes were extensively analysed and found to exclude linkage to the X chromos

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb04149.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

Apolipoprotein B (apoB) signal peptide (sp) polymorphism was characterized by polymerase chain reaction in blood samples of 58 coronary artery disease (CAD) patients and 319 control individuals of Chinese Han ethnic origin in Taiwan. In the CAD group, 77% of the observed alleles weresp27 (spwith 27 amino acids), and the remaining 23%sp24 (spwith 24 amino acids). The frequency distributions of the apoBspallele in the control group were 0.81 forsp27and 0.19 forsp24.The genotype distributions were 0.64sp27/27,0.26sp27/24and 0.10sp24/24in the CAD group; 0.64sp27/27.0.33sp27/24and 0.03sp24/24in the control group. The frequency ofsp24/24was significantly higher (p= 0.012) in the CAD group than in the control group. Several studies have shown that the frequency ofsp24/24is higher in hyperlipidemic than in normolipidemic groups. This marker is probably in linkage disequlibrium with some other atherogenic genes. Our study shows that the differences in both apoB signal peptide alleles andsp27/27andsp27/24genotype distributions are statistically significant between the Taiwanese and Caucasians.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb04150.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

The three‐amino acid insertion/deletion (I/D) polymorphism in the apoB signal peptide (27 amino acidversus24 amino acid signal peptide) was evaluated as a possible risk factor for myocardial infarction (MI) in a case‐control study population comprising 238 MI survivors and 547 controls. In controls, homozygotes for the deletion allele (DD) had the highest mean levels of both total cholesterol and low density lipoprotein (LDL) cholesterol (LDLC), the homozygotes for the insertion allele (II) had the lowest mean values, while the heterozygotes (ID) had intermediate mean levels (p<0.05). In MI survivors, the trend was similar, but only differences in mean LDLC levels were statistically significant (p<0.05). No differences in genotype frequencies were detected between cases and controls in univariate analysis or in multivariate logistic regression analysis. Despite the results from the lipid analyses, we conclude that the I/D polymorphism in the apoB signal peptide is unlikely to be of major importance for MI risk in relatively young Norwegi

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb04151.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

We report on five patients with Aarskog syndrome who show previously undescribed umbilical features. Two of the five patients had protruding umbilicus, while the other three had a characteristic umbilicus consisting of a smooth depression with radiating branches of the cicatrix, and a flat cushion. These umbilical configurations have not previously been described in association with Aarskog syndrome. The flat configuration of the umbilicus could be a characteristic umbilical finding associated with Aarskog syndrome as well as the protruding umbilicus.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb04152.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

The allele frequency of GATT and Mp6D‐9 markers was investigated in 32 cystic fibrosis (CF) families. The GATT6allele was found to be significantly associated with the ΔF508 mutation. The Mp6D‐9 allele 2/GATT6haplotype was the major haplotype of the mutant alleles. Further analysis of CF alleles for population‐specific mutations is underway so that a more direct approach can be taken, especially for families seeking prenatal dia

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb04153.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb04154.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY