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Biomedical subjects

G Machill

Publications and source records attributed to G Machill.

At least 19 recordsLinked to original sources
PubMed1994

Results of selective screening for inborn errors of metabolism in the former East Germany.

Since the early 1970s selective screening for inherited metabolic disorders has been performed in larger children's hospitals or metabolic centres of the former East-Germany. As a rule the following methods were employed: initially paper chromatography, drop, dip and spot tests, later on thin-layer chromatography and more recently enzyme analysis, gas chromatography, mass spectrometry and HPLC. Normally urine, blood or leucocytes were investigated. The diagnoses were confirmed in metabolic centres in Greifswald, Berlin or Leipzig or in collaboration with specialized laboratories abroad. About 130,000 subjects from former East Germany as well as from different East European countries were investigated, of which 365 patients were diagnosed and classified into roughly 40 various metabolic diseases. The proportion of positive diagnoses was 1 in 400.

Germany, East↗
PubMed1991

Segregation and sporadic cases in families with Hunter's syndrome.

Segregation analysis on five samples of families with Hunter's syndrome (158 cases overall) shows that the mutant allele segregates in agreement with Mendelian expectations for an X linked recessive disease, but the proportion of sporadic cases is significantly lower than expected under mutation-selection equilibrium. Heterogeneity among the samples is apparent, but it is caused entirely by a sample of Ashkenazi families, whose segregation pattern has previously been interpreted as supporting the hypothesis of prenatal selection in favour of the pathological allele. Conversely, our joint analysis of the five samples by a maximum likelihood approach does not suggest segregation distortion. Possible reasons for the apparent lack of sporadic cases include the effect of ascertainment bias.

Alleles↗
PubMed1991

Evidence supporting tight linkage of X-linked Emery-Dreifuss muscular dystrophy to the factor VIII:C gene.

In a large German family with Emery-Dreifuss muscular dystrophy (EDMD) linkage analysis was performed using the factor IX gene (F9), the factor VIII:C gene (F8), the anonymous DNA probe DXS52, and DXS15 as markers. Tight linkage was found between the EDMD locus and the F8 probe (Zmax = 1.19; theta max = 0.00), DXS15 (Zmax = 1.75; theta max = 0.00) and DXS52 (Zmax = 2.26; theta max = 0.00). Weak linkage was found to F9 (Zmax = 0.02; theta max = 0.43). The data from the literature and our results suggest that the gene locus of EDMD is close to F8 (confidence interval theta = 0-0.07). The new linkage data are useful for carrier detection and diagnosis of EDMD patients before onset of major clinical signs.

Cardiomyopathies↗
PubMed1990

Birth distribution in cystic fibrosis and phenylketonuria.

The present study of 977 cystic fibrosis (CF) patients showed a bimodal birth distribution with peaks in April to July and October to January. After adjustment to the monthly variation of the birth rate of all liveborn children there was no significant deviation from the expected distribution. The 387 phenylketonuria (PKU) patients showed no seasonal birth variation.

Cystic Fibrosis↗
PubMed1983

Reliability of the Tønnesen technique for the identification of Hunter carriers.

The procedure for the detection of Hunter carriers suggested by Tønnesen et al. (1982) was checked in different mixtures of normal and Hunter cells as well as by examination of five obligate and five potential Hunter carriers. In the presence of fructose 1-phosphate there was a strict correlation between the proportion of mutant cells in the fibroblast culture and sulphate accumulation, both in artificial cell mixtures and in native cell cultures of Hunter carriers. In all obligate heterozygotes studied, sulphate incorporation was increased by a factor of two. The new technique seems to be suitable for carrier diagnosis. Its limitations are discussed.

Biopsy↗