摘要:

SUMMARYA method has been developed for the electrophoretic and quantitative analyses of human red cell δ‐aminolevulinate dehydrase (ALADH). The enzyme is under the control of an autosomal gene, with two common codominant alleles,ALADH1andALADH2, with frequencies of 0–89 and Oil, respectively, in the Italian population. Mean phenotypic enzyme activities are nearly identical: 52, 49 and 55 mlU/g Hb for ALADH 1, 2‐1 and 2 phenotypes respec

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1981.tb00333.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

SUMMARY1. Two methods have been devised for the detection after electrophoresis of γ‐aminobutyric acid transaminase (GABAT) isozymes.2. GABAT isozymes can be detected in liver, brain, kidney, pancreas, heart, testis, spinal cord and upper jejunum. The greatest activity occurs in liver.3. Three different commonly occurring electrophoretic types of GABAT have been identified. It seems likely that they are determined by two alleles at an autosomal locus(GABAT).4. The gene frequenciesof GABAT1andGABAT2in a random sample of European livers were 0.56 and 0.44 respectively.5. The three banded patterns seen in heterozygotes suggest that GABAT is a dimeric enzyme.6. GABA, β‐alanine and 5‐aminovaleric acid can act as substrates for GABAT.7. GABAT activity can be demonstrated in all areas of human brain with the exception of the corpus callosum. Brain samples from patients with Huntington's chorea show no abnormal GABAT activity or unusual phe

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1981.tb00334.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

SUMMARYSoluble malic enzyme (MES) has been examined in long‐term human lymphoid cell lines cultured from 101 individuals. In 65 out of 66 lines derived from people without lymphoreticular malignancy the enzyme was very active. Lines established from 35 individuals with various forms of lymphoreticular malignancy were also examined, including in some cases more than 1 line derived from the same patient. In all cases where the cell line was thought to be derived from normal cells MESwas active, but in 27 out of 29 lines thought to be derived from malignant cells (from 25 patients) MESwas not detected. In the case of two patients with chronic lymphatic leukaemia ‘normal’ lines active for malic enzyme, and ‘leukaemic’ lines lacking malic enzyme, had been cultured from the same individual. Preliminary investigations of the lack of malic enzyme in somatic cell hybrids derived from lymphoma and leukaemia cell lines are compatible with an alteration at the level of the structural locusMESon chromosome 6. However, the restoration of MESactivity in one line by fusion with mouse teratocarcinoma cells suggests that the alteration may be of a regulato

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1981.tb00335.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

SUMMARYA family with two nucleoside phosphorylase‐deficient patients has been scored for the segregation ofNP0and the variable region14p.The most likely14p: NPrecombination fraction is (M5 in males and 0–30 in females.There is no family data to assign thePi:Gmlinkage group to chromosome 14, but as immunoglobulin heavy chain has been assigned to this chromosome by somatic cell methods the most likely gene order is14p:NP: Pi:GmwithPiin 14q2 andGmin 14(q23 →q32), but the order14p:NP:Gm:PiwithPiin 14(q24 → qter) andGmin 14(q22 → q24) is not excluded.The available linkage data between biochemical markers on acrocentric chromosomes and their short arm markers suggest that there may be more recombination towards the ends of human chromosomes whether or not those ends carry ce

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1981.tb00336.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

SUMMARYAn improved mathematical method is presented for estimating the amount of fitness reduction due to a chronic disease by using demographic data. It is shown that Cavalli‐Sforza and Bodmer's equivalent formula gives an underestimate. Application of the new formula indicates that the selective difference between blood groups 0 and A, resulting from their association with duodenal ulcer, is 6‐4 times 10‐5, i.e. ten times higher than Cavalli‐Sforza and Bodmer's e

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1981.tb00337.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

SUMMARYDifferential stillbirth rates as a function of birth‐weight have been studied in all single births in Italy in the years 1954, 1961, 1967 and 1974. In the course of the twenty year interval of observation the following changes were found: (i) a progressive equalization of mortality in birth‐weight classes near the mean; (ii) a reduction of the directional component of selection which is parallel to the increase of mean birth‐weight (in the case of 8 months of pregnancy); (iii) a reduction of the stabilizing component of selection which is parallel to the decrease of birth‐weight variance (in the case of 9 months of pregnancy); (iv) a reduction of selection intensity, while selective mortality remains more or less unchanged. The modifications of natural selection associated with birth‐weight as a consequence of health care progress in this population are also

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1981.tb00338.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

SUMMARYAn extensive Newfoundland genealogy shows a large number of cases of lymphoreticular malignancies. A recessive pattern of inheritance had been previously suggested, but no quantitative investigation of the hypothesis was made. Here we have investigated a variety of aspects of the descent structure of the pedigree and shown that for only a subset of the traits can the inference be upheld. For Hodgkin's disease (HD) and generalized immunodeficiency (ID) there is clear evidence for a recessive HD/ID susceptibility allele. The remainder do not follow this pattern, show no evidence of a single‐locus effect and little of any genetic effect.The ancestry of the HD/ID cases was therefore investigated in detail, and likelihoods computed on the pedigree. These confirmed the recessive nature of the trait, as also did the risk analysis which quite clearly identified the paths of descent taken by the allele. The determination of these paths is a prerequisite for any linkage analysis which might further confirm the single‐locus nature of the tr

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1981.tb00339.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

SUMMARYWhen comparing the odds ratios (OR's) obtained by contrasting various HLA‐DR phenotypic classes in patients (e.g. diabetics) and controls, it is desirable to use the same reference phenotypes for all OR's. If this is done, it can be shown that the OR for, say,DR3/4, heterozygotes cannot exceed the OR's for both of the two homozygotes(DR3/3andDR4/4), if there is one disease susceptibility locus with one normal allele and one susceptibility allele in linkage disequilibrium with twoHLA‐DRalleles{HLA‐DR3and4)and if the action of the susceptibility gene is dominant, recessive or intermediate between dominant and recessive. In each of these cases, the OR for the heterozygotes will be intermediate between the OR's of the two homozygotes. If the two alleles at the susceptibility locus act in an overdominant way, the OR for the heterozygotes may in some cases exceed the OR's of both homozygotes. Comparison of the magnitude of two OR‐values can be reduced to investigating whether the OR value generated by comparing one phenotypic class against the other (as reference group) differs from unity. There is suggestive but not conclusive evidence that the OR of developing insulin‐dependent diabetes for theDR3/4genotype is higher than the corresponding OR‐values for both of the two homozygotes(DR3/3andDR4/4), indicating that the susceptibility to this disease may not be explained by a dominant, recessive or interme

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1981.tb00340.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

SUMMARYBased on a theory of generalized kinship coefficients a recursive algorithm for the calculation of the coefficient of kinship and all nine condensed identity coefficients for any two individuals with given pedigree is described. Furthermore, the algorithm also permits the calculation of all fifteen detailed coefficients for two individuals neither of whom is an ancestor of the other one. Results for standard as well as highly inbred relationships are given.

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1981.tb00341.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1981.tb00342.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY