Search PubMed⌕ Search

Biomedical subjects

J Henke

Publications and source records attributed to J Henke.

At least 73 records · Page 4Linked to original sources

Population genetic data determined for five different single locus minisatellite probes.

We report on the population genetic data (frequencies of restriction fragments, heterozygosity rates, and mutation rates) obtained by analysis of approximately 1100 Hinfl-digested DNAs from West Germans. Probe G3 detects a common 1.7 kb DNA fragment showing a population frequency of about 13%. All the other fragments detected with probes MS1, MS31, MS43, G3 and YNH24 show frequencies of less than 8%. These data suggest that single locus DNA probes can provide valuable information for parentage evaluation and individualization.

DNA Probes↗

Inheritance of some electrophoretic phenotypes of human hair.

Four isokeratin patterns were demonstrated by means of one-dimensional SDS electrophoresis of low sulfur proteins in human hair. The phenotypes had the following frequencies: K1 = 69.70%, K1m = 18.18%, K3 = 9.09%, K3m = 3.03%. Pedigree analysis and evaluation of observed and expected frequencies of the phenotypes gave rise to the conclusion that the phenotypes are controlled by genes of two independent autosomal loci K and m. We believe that *K3 and *m are dominant, whereas *K1 and *non-m are recessive.

Electrophoresis, Polyacrylamide Gel↗

BamHI polymorphism of locus D2S44 in a West German population as revealed by VNTR probe YNH24.

BamHI polymorphism at the VNTR locus D2S44 was investigated, concentrating on band frequencies, mutation rate and confirmation of Mendelian inheritance. In this series 39 restriction fragments showing frequencies less than 10% could clearly be distinguished. No mutations could be observed and the Mendelian character of inheritance is beyond reasonable doubt.

Blood Group Antigens↗

[Use of DNA polymorphism in forensic paternity evaluation].

Problematical paternity cases were additionally subjected to DNA-polymorphism analysis. 5 cases are reported, focusing on problems due to, 'silent' allele transmittance, relatively low probability for paternity, obvious occurrence of the extremely rare Rh gene complex CWc, involvement of brothers as putative fathers, non-paternity of a man although his W-value was 99.975%. The aim of this paper is to demonstrate the need for DNA-polymorphism analysis, if conventional blood group tests do not lead to a clear-cut decision. Extended typing of conventional blood group polymorphisms (except HLA) cannot compete with highly polymorphic DNA loci.

Adult↗

Early diagnosis of spina bifida: the value of cranial ultrasound markers.

Ultrasonography plays an integral part in the prenatal diagnosis of neural tube defects. However, experienced sonographers with careful evaluation are successful in accurately diagnosing spina bifida only 80-90% of the time. This study was conducted to evaluate the accuracy and reliability of certain cranial ultrasound markers--the "lemon sign," cerebellar abnormalities, microcephaly, and ventriculomegaly--in facilitating the diagnosis of spina bifida in patients referred for prenatal diagnosis. Open spina bifida was diagnosed in 24 of 44 fetuses found to have neural tube defects. The lemon sign and cerebellar abnormalities were identified in all 16 fetuses in whom the diagnosis of spina bifida was made between 16-24 weeks' gestation. In four of these fetuses, the lemon sign and cerebellar abnormalities were noted 1-2 weeks before the spinal defect was identified. Microcephaly was present in 69% and ventriculomegaly in 63% of the cases. In the eight cases diagnosed after 24 weeks' gestation, the lemon sign was less reliable, being noted in only 25% of the fetuses. Ventriculomegaly increased in frequency to 75% and cerebellar abnormalities and microcephaly were present in all. Our findings indicate that these cranial ultrasound markers are extremely reliable for the early diagnosis of spina bifida; their identification should alert ultrasonographers at all skill levels to the possibility of open spina bifida.

Cerebral Ventricles↗

Two new esterase D (ESD) variants revealed by isoelectric focusing in agarose gel.

Using isoelectric focusing in thin-layer agarose gel (AGIF) with the narrow pH range of 4.5-5.4, a high resolution of esterase D (ESD) isozyme banding patterns has been achieved. Some variant phenotypes which could not be distinguished from common ESD types by conventional electrophoresis have shown different patterns after AGIF. The IEF method permitted the distinction of two further variants in the ESD system, tentatively named ESD Rehren and ESD Ravensburg. We recommend, therefore, that for the classification of ESD phenotypes a high resolution IEF technique should be used.

Alleles↗

Restriction analysis of the structural alpha-L-fucosidase gene and its linkage to fucosidosis.

Human alpha-L-fucosidase is a lysosomal enzyme responsible for hydrolysis of alpha-L-fucoside linkages in fucoglycoconjugates. A single gene, FUCA 1, located on chromosome 1p34.1-1p36.1 encodes for alpha-L-fucosidase activity. To gain insight into the nature of the molecular defects leading to fucosidosis, we have characterized the genomic structure of FUCA 1. Restriction-endonuclease analysis suggests that at least seven exons dispersed over 22 kb are present in genomic FUCA 1. Two restriction-fragment-length polymorphisms (RFLPs) have been identified in the Caucasian population. The PvuII and BglI RFLPs each have two codominant alleles in Hardy-Weinberg equilibrium. Allele frequencies for the PvuII RFLP are .70/.30, and those for the BglI RFLP .63/.37. Both RFLPs are in strong linkage disequilibrium with each other, with a correlation coefficient of .94. The polymorphism information content (PIC) of the combined DNA markers is .38, high enough to be useful in the prenatal diagnosis of fucosidosis. The combined lod score for linkage between the fucosidosis mutation and FUCA 1 markers in two families was significant at a recombination fraction of 0. This suggests that the fucosidosis mutation resides in FUCA 1.

Blotting, Southern↗

Comparison of different X-ray films for 32P-autoradiography using various intensifying screens at -20 degrees C and -70 degrees C.

The amplifier effect of different intensifying screens on commercially available X-ray films was tested in autoradiography with 32P at -20 degrees C and -70 degrees C. For the films X-Omat AR, RX and HR-G in combination with the screens G 12 and Lgy-S 600, there was no significant enhancement of blackening at -70 degrees C compared with -20 degrees C. Therefore exposure at -20 degrees C is generally feasible, if an appropriate film-screen combination is used.

Adenosine Triphosphate↗

[Possible common partial antigens in human Ig allotype structure and ubiquitous bacteria, studied with the example of Escherichia coli].

As can be learned from the literature, bovine serum may contain antibodies directed against human immunoglobulin allotypes. This gave rise to the question of what the origin of those antibodies is. We tested bacteria (E. coli) by means of the haemagglutination inhibition assay, which is used to type either Gm or Km factors. Anti-G1m(2) and anti-G3m(10)-specific antibodies were inhibited by the bacteria in a clear-cut manner, as was anti-Km(1), albeit less significantly. In contrast, the bacteria tested almost totally failed to inhibit anti-G3m(21) serum. The results lead to the assumption that E. coli may carry both Gm- and Km-like antigenic structures, which are presumably the antigenic material leading to immunization of cattle. Furthermore, new attention is drawn to a mechanism for immunization which is discussed regarding the genesis of either AB0 isoagglutinins in man or other "naturally occurring" antibodies.

Antibodies↗

DNA polymorphism of the major histocompatibility class I genes and their association with serologically defined haplotypes.

DNA of unrelated persons as well as members of families that were totally or partially homozygous or completely heterozygous on the loci of the major histocompatibility class I genes has been isolated from peripheral blood lymphocytes and blot hybridized with the class I pseudogene pHLA 12.4 probe. The autoradiographic DNA patterns were discussed and compared with well-defined serological features. Positive associations with serologically typed alleles had been demonstrated for HLA-A1,11; -A2; -A3; -B7; -B14; -B35; -Bw41; and -Cw5.

Alleles↗

A reliable method for localizing deep intracranial sources of the EEG.

We have demonstrated the reliability of a noninvasive method for successfully localizing the intracranial origin of the EEG. The dipole localization method (DLM) is a computer-assisted, mathematical method based on electrical field theory and is similar to localization methods currently used by electrocardiologists. In 12 patients with intractable epilepsy who were being evaluated for surgery, a known current source was introduced between two adjacent depth electrodes. Using scalp-recorded EEG only, DLM accurately and reliably localized the source to within 2 cm of the known origin in all instances where a discrete source was present. We conclude that DLM is a valid and reliable noninvasive method for localizing the intracranial source of some scalp-recorded EEG potentials, and that in some patients, use of this method may obviate the need for depth electrode implantation.

Adult↗