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Biomedical subjects

K Wulff

Publications and source records attributed to K Wulff.

At least 55 records · Page 3Linked to original sources
PubMed1990

RFLP analysis for diagnosis of haemophilia A in the German Democratic Republic.

The frequencies of Bcl I, Hind III and Xba I intragenic polymorphic sites in the population of the GDR were found to be 0.68, 0.38 and 0.48, respectively. No differences in composition and frequencies were detectable at DXS 52 locus in comparison with other Caucasian populations. A strong linkage disequilibrium between the intragenic Bcl I and Hind III sites could be confirmed. The observed heterozygosity for the flanking marker DXS 52 in combination with intragenic Bcl I and Xba I polymorphisms was 0.97. Using these three RFLPs, 122 females at risk in 41 independent haemophilia A families were investigated; 86 of them could be identified and 27 excluded as carriers; 9 females could not be classified. So far, four prenatal diagnoses in the first trimester of gestation have been performed by RFLP analysis.

DNA↗
PubMed1990

Deletion analysis of DMD/BMD families from the German Democratic Republic and selected regions of Czechoslovakia and Hungary.

Over the last two years we have screened 183 DMD/BMD families requesting prenatal diagnosis. Using cDNA probes cf56a,b we have detected exon deletions in 72 of them. In 62 cases the deletion was also detectable with currently available PCR primers. Deletion analysis for exons 8, 17, and 19, using either PCR or Southern blotting techniques, was performed for 65 of the 111 families which showed no deletions with cf56a,b. Eight of them were deleted for one or more of these exons. PCR offers new possibilities for deletion analysis in families without a living patient using either Guthrie papers or histologically conserved material from the dead patient. In 20 of 25 patients, we observed concordance between the clinical picture and the molecular deletion analysis in accordance with the open reading frame hypothesis. Five patients, however, presented with DMD in spite of our analysis showing an in frame deletion. Carrier determination in families in which DMD is caused by a deletion using linkage, dosage, or breakpoint analysis is discussed.

Blotting, Southern↗
PubMed1989

Prenatal diagnosis of phenylketonuria by haplotype analysis.

Prenatal diagnosis of classic phenylketonuria (PKU) was performed after chorionic villus sampling by means of linked restriction fragment length polymorphisms (RFLPs) using the cDNA probe ph PAH 247 (Kwok et al. (1985) Biochemistry, 24, 556-561). We report in this paper a PKU family who were only informative for RFLP analysis by a combination of two RFLPs on the basis of haplotype determination of the normal and mutant phenylalanine hydroxylase (PAH) alleles. The DNA analysis detected a PKU fetus homozygous for mutant PAH alleles and the mother opted for termination in the 12th week of gestation.

Chorionic Villi Sampling↗
PubMed1989

Deletion screening in patients with Duchenne muscular dystrophy.

DNA of 35 patients with Duchenne muscular dystrophy (DMD) from 27 unrelated families from the northern part of GDR, Czechoslovakia and Hungary were analysed by means of 9 genomic probes and cDNA probes Cf 23a and Cf 56a, which detect exons of the central part of the DMD gene. Of the unrelated DMD patients, 63% have deletions for one or more intragenic and/or cDNA probes and 33% have deletions for genomic probes, mostly for pERT 87 (15%) and P 20 (15%). 48% of the DMD patients have deletions for one or more exon regions detected by Cf 56a and Cf 23a. The deletions were mapped. The genomic probe P 20 and the distal part of the cDNA probe Cf 23a detected the same part in the centre of the DMD gene. The deletions are heterogeneous in size and extent. In patients of the same family, identical deletions were detected in the DMD gene. The detection of deletions is useful for prenatal diagnosis and carrier detection.

Chromosome Deletion↗
PubMed1989

Gene diagnosis in X-linked ichthyosis.

Three families segregating for X-linked ichthyosis (XLI) were analysed using the full-length STS cDNA probe and an anonymous polymorphic DNA sequence closely linked to the STS gene. In patients from two of the families, submicroscopic chromosomal deletions could be detected using both the STS and the GMGX9 (DXS237 locus) probes. Patients in the third family showed the same hybridization pattern as healthy males following molecular hybridization with either of the probes. The results of DNA analysis (indirect genotype diagnosis) agree well with those based on the arysulfatase C/beta-gal determination and prove the reliability of the biochemical test. Both methods are discussed for carrier detection, prenatal diagnosis, and genetic counseling.

Arylsulfatases↗
PubMed1988

[Initial results of genetic carrier diagnosis in risk pedigrees with hemophilia A and B in East Germany].

In 7 families at risk for hemophilia A 42 individuals were evaluated by the Taq I polymorphism of the extragenic probe St 14.1 and the Bcl I as well the Hind III polymorphism of the intragenic probe F8e16-19. 15 out of 20 females of the core families were identified as carriers, under them all of the obligate heterozygotes. 5 individuals were excluded as carriers. The heterozygosity for each of the RFLPs was found to be between 30% and 79%. Combining the single data in 96% heterozygosity was found under the individuals tested. A linkage disequilibrium was found between the Bcl I and Hind III polymorphismus of the probe F8e16-19. A family at risk for hemophilia B including 5 individuals was studied using the Taq I and Xmn I polymorphisms of the probe P1. In one of two females the carrier state could be excluded in the other one confirmed.

Genetic Carrier Screening↗
PubMed1988

Linkage analysis in X-linked ichthyosis (steroid sulfatase deficiency).

Linkage analysis has been carried out in nine unrelated families segregating for X-linked ichthyosis (steroid sulfatase deficiency) using seven polymorphic DNA markers from the distal Xp. Close linkage was found between the disease locus and the loci DXS16, DXS89, and DXS143. In all families except one, Southern hybridization with the human steroid sulfatase cDNA and GMGX9 probes showed a deletion of corresponding loci in affected males. Three patients belonging to the same family had no evident deletion with either of the two above-mentioned probes. None of the other six DNA loci included in the linkage analysis were found to be deleted.

Arylsulfatases↗
PubMed1988

Haplotype analysis of classical and mild phenotype of phenylketonuria in the German Democratic Republic.

The restriction fragment length polymorphism (RFLP)-haplotypes have been analysed in 16 families from the northern part of the GDR at risk for classical and mild phenylketonuria (PKU). Ten different RFLP haplotypes associated with the normal and mutant phenylalanine hydroxylase (PAH) alleles were identified. Of the 32 mutant alleles analysed, 29 (90.6%) were associated with haplotypes 1, 2, 3 and 4; 53.1% of the mutant alleles were linked with haplotype 2. The distribution of RFLP haplotypes in 16 patients of clinical different PKU phenotypes (classical and mild) is reported.

Alleles↗
PubMed1988

[Studies on tryptophan metabolism in calcium oxalate urolithiasis].

In 90 patients with calcium oxalate urolithiasis an oral tryptophan-loading test with 5 g L-tryptophan was performed and the 24-hour urinary excretion of xanthurenic acid and kynurenine was measured. In 10 cases pathological deviations and an excretion pattern of tryptophan metabolites via kynurenine similar as in the hereditary vitamin-B6-dependent xanthurenic aciduria in homozygous or heterozygous from were found. Correlations between the oxalate excretion and the tryptophan metabolism do not exist. A 2-year therapy with 60 mg vitamin B6 was favourable in patients with an excretion of more than 300 mumol XA after a tryptophan load.

Administration, Oral↗
PubMed1987

[Toxocariasis].

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Child, Preschool↗
PubMed1987

Latissimus dorsi free flaps for total repair of extensive lower leg injuries in children.

A well-established belief is that with crushed and contaminated wounds closure should be delayed. However, an emergency procedure involving very thorough debridement, complete reconstruction of all injured tissues, and cover by a latissimus dorsi free flap in the same operation is evaluated in 15 children presenting with severe injuries to the lower limb. It is felt that the procedure is superior to the established method because it is a one-stage procedure that minimizes the danger of infection, prevents growth impairment, shortens hospitalization, and allows early mobilization, thus being, in some cases, a limb-saving procedure.

Child↗