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D N Propert

Publications and source records attributed to D N Propert.

27 records · Page 2Linked to original sources
PubMed1979

Pseudocholinesterase activity and E1 phenotypes in Down's syndrome and mental retardation.

Pseudocholinesterase activity and the phenotypes controlled by the E1 locus have been determined in a sample of 307 Down's syndrome patients and 206 patients suffering from nonspecific mental retardation and compared to those in the healthy population. Both groups of patients have an elevated frequency of phenotypes possessing the rate E1f allele. The mentally retarded patients have a higher mean pseudocholinesterase activity than those with Down's syndrome who, in turn, have activity than the healthy controls.

Butyrylcholinesterase↗
PubMed1979

Pseudocholinesterase activity and phenotypes in mentally ill patients.

Pseudocholinesterase activities and phenotypes have been determined in 103 affectively ill patients, 168 schizophrenics and 73 Huntington's disease sufferers and compared with those of a sample of healthy controls. The distributions of phenotypes in the patient samples did not differ significantly from those of the controls. When corrections were made for sex, age and E1 phenotypes, the Huntington's disease patients showed a reduced level of cholinesterase activity. Normal levels were found in affective disorders and schizophrenia.

Affective Symptoms↗
PubMed1978

The relation of sex, smoking status, birth rank, and parental age to beta2-glycoprotein I levels and phenotypes in a sample of Australian Caucasian adults.

The serum level of beta2-glycoprotein I has been measured in a sample of 532 healthy, unrelated Caucasians resident in Melbourne. The distribution of levels is bimodal but lacks complete separation of the two modes. Samples with levels below 14.0 mg/100 ml are considered to be type I, and those above this level to be type N. The present sample contains 42 subjects of the former phenotype and 490 of the latter. The phenotypes are distributed equally between males and females and between smokers and nonsmokers and are unrelated to age, birth rank, or parental age. The gene frequencies for the Melbourne sample are compared with those found in various European samples. The beta2-glycoprotein I level of type N males is higher than that of females, and smokers have a higher level than nonsmokers. The positive regression of level on age is significant when corrections are made for sex and smoking status. beta2-glycoprotein I level is highly correlated with pseudocholinesterase activity. The pattern of inheritance of phenotypes has been examined in 17 families with a total of 56 children. In all families, this pattern is consistent with the currently accepted mode of autosomal codominant transmission.

Australia↗
PubMed1978

A linkage study of the loci for Huntington's disease and some common polymorphic markers.

The phenotypic frequencies of 24 polymorphic blood markers in a sample of patients with Huntington's disease (HD) have been compared with those in a sample of healthy Australian volunteers in an effort to detect any associations between HD and the markers concerned. The Rh factor, c, has a significantly lower frequency in the HD sample while ACP1c and Gm1,2 have a significantly higher frequency. The linkage relations of the HD locus have been analysed with respect to the various marker loci concerned. This analysis involved the development of methods to overcome the general lack of genetic data concerning the affected parent and the possibility that presently unaffected offspring may be asymptomatic carriers of the HD gene. The results suggest that close linkage between the HD locus and Fy, ADA, ACP1, Gc or Bg is highly unlikely. They also suggest a low probability of close linkage to ABO, Rh, Jk, Lu, AK1, PGM1 or C3. Positive linkage scores were obtained for P, Hp and Gm. The results are inconclusive for MNSs, K, Le, Se, GPT and Inv. The available data were uninformative for linkage between the HD locus and Co, 6-PGD or E1.

Australia↗
PubMed1976

The relation of sex, age, smoking status, birth rank and parental ages to pseudocholinesterase activity and phenotypes in a sample of Australian Caucasian adults.

The frequencies of the pseudocholinesterase alleles E1u, E1a and E1f have been determined in a random sample of Australian residents. The frequency of E1a is the highest yet reported in a large caucasian sample. The considerable variation in E1f frequencies in previously reported samples is discussed in terms of possible sources of error in fluoride number determinations. Enzyme activity was found to increase with age in adulthood and was higher in males than in females. It was also positively correlated with dibucaine number in type U subjects. These observations are in conflict with those reported in previous investigations.

Age Factors↗
PubMedDate not supplied

Genetic analysis of systolic blood pressure in Melbourne families.

1. Circumstantial evidence suggests that immunological mechanisms might contribute to hypertension in man. If so, it would be expected that those genetic loci which influence the human immune response would also influence the risk of hypertension. 2. To test this hypothesis, the distribution of systolic blood pressure (SBP) was studied in seventy-eight families comprising 437 adults ascertained through fifty-eight probands with hypertension and twenty probands with low to normal levels of blood pressure. After allowing for the method of ascertainment of the families, and adjusting for the effects of age and sex, about 55% of the phenotypic variance of SBP could be attributed to genetic factors including 23% (42% of the additive genetic variance) attributable to the effects of immunogenetic loci (HLA and Gm). 3. This suggests that relatives with a greater number of HLA and Gm haplotypes in common had more similar SBP levels than similar relatives with fewer HLA and Gm haplotypes in common. This finding supports the hypothesis that immunological mechanisms contribute to hypertension in man.

Adult↗
PubMedDate not supplied

Alpha-1-antitrypsin phenotypes in leukaemia and lymphoma.

Serum samples from 564 Caucasian patients suffering from either leukaemia or lymphoma were typed for the protease inhibitor (Pi) alpha-1-antitrypsin (AAT). No evidence was found for the predisposition of any Pi phenotype to leukaemia or lymphoma. However, the frequency of PiM3 was significantly lowered among patients with acute myeloid leukaemia.

Humans↗