摘要:

SUMMARYC5 is polymorphic in Melanesians and related peoples. The polymorphism is demonstrated by isoelectric focusing and functional detection. Inheritance is autosomal and codominant. Preliminary linkage data suggest that C5 is not close to HLA.

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1981.tb00299.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

SUMMARYUsing specific immunoprecipitation of M‐type phosphofructokinase and assay of immuno‐precipitate enzyme activity, it was possible to detect some M‐type enzyme in normal blood cells and fibroblasts, although this isozyme represents a very small part of total phosphofructokinase. White blood cells and cultured fibroblasts from a patient with hereditary muscle phosphofructokinase deficiency showed normal phosphofructokinase activity and electrophoretic pattern; direct immunoneutralization results were also normal. Nevertheless, it was possible to prove the defect in these cells using the immunoprecipitation method: no active immunoprecipitates could be obtained with anti M‐type antibody.Thepatient's red blood cells had a reduced phosphofructokinase activity which was only neutralized by anti L‐type antiserum. Total purification of partially deficient red cell phosphofructokinase confirmed that this enzyme only consisted of L‐type subunits while, under normal conditions, both L‐ and M‐type subunits are observed.The possibility of detecting specific enzyme defects in apparently non‐affected cells could be of practical importance, especially in p

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1981.tb00300.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

SUMMARYThe distribution of ADA activity has been studied for ADA 1 and ADA 2‐1 individuals in intact and lysed erythrocytes and in lymphocyte lysates.ADA activity in intact RBC is 20‐30% lower than in lysates, in lymphocytes it is 10 times higher.The difference between ADA 1 and ADA 2‐1 mean enzyme activities which we previously described in RBC lysates has been found also in intact RBC and in lymphocyte ly

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1981.tb00301.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

SUMMARYAdenosine deaminase activity has been measured in red cells from individuals of known ADA phenotype (ADA 1, ADA 2‐1, ADA 3‐1, ADA 3‐2) using adenosine and 2′‐deoxyadenosine as substrates. No significant differences were observed among the phenotypes in their relative deaminase activity with the two substrates. However, evidence suggests the occurrence of an uncommon allele designatedADA1wdetermining low levels of ADA activity.The deaminase activities of the phenotypes were in the order ADA 1>ADA 2‐1>ADA 3‐1>ADA 3‐2 with both substrates. The relative activities of the alleles were estimated to be:ADA1100%,ADA289%,ADA328% andADA167% with adenosine, andADA1100%,ADA287%,ADA339% andADA166% with 2′‐deoxyadenosine.The Michaelis constants for adenosine and 2'‐deoxyadenosine were determined for the different phenotypes. There were no significant differences in these values

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1981.tb00302.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

SUMMARYTen enzymes, all known to be glycoproteins, were examined by electrophoresis or gel isoelectric focusing in 12 different patients with primary or secondary sialidase deficiency. Aberrant electrophoretic mobilities of many of the enzymes attributable to abnormal sialylation were found in all the patients. In ten of the patients seven of the enzymes were affected. The unaffected enzymes wereβ‐galactosidase, alkaline phosphatase andβ‐glucuronidase. In the cells from the two patients with I cell disease (mucolipidosis II) in which sialidase is one of many deficient enzymes,β‐galactosidase,α‐galactosidase,α‐fucosidase andα‐mannosidase were undetectable, alkaline phosphatase showed a normal electrophoretic mobility and acid phosphatase, adenosine deaminase,α‐glucosidase andβ‐D‐N‐acetylhexosaminidase

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1981.tb00303.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

SUMMAEYLinkage analyses of the MNSs groups of families with chromosome 4 rearrangements support the assignment of theMNSslocus to chromosome 4 in the region q28‐q3

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1981.tb00304.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

SUMMARYPermanent and deciduous tooth crown sizes in two males with deletions of the long arm of the Y chromosome and their first‐degree relatives were examined. The first proband with a deletion in the proximal part of Yqll showed definitely smaller teeth than his father or population control males. The second proband with a deletion in the distal part of Yqll showed large or normal sized teeth compared to his brother or population control males. These data support the results of earlier studies indicating a promoting effect of the Y chromosome on tooth growth, and suggest that the location of the growth‐promoting gene(s) is in Yqll. It is postulated that statural growth is affected by the same gene

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1981.tb00305.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

SUMMARYDifferential mortality as a function of birth weight was studied up to the 4th week of life in all single births in Italy in 1974.(i) Both selection intensity and selective mortality are much higher with increasing immaturity.(ii) For babies born at term or after 8 months of pregnancy selection intensity tendsiorelax as early as one week after birth, while for those born after 7 months selection is at work for a longer period.(iii) Selective mortality, on the other hand, keeps increasing after birth but its relevance is relatively decreasing since average mortality after birth continues to dec

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1981.tb00306.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

8. SUMMARYA counting method has been developed to estimate the probabilities of origin of trisomy and triploidy. A method for finding the standard errors of the estimators has also been developed. It has also been shown that this counting method is equivalent to the method of maximum likelihood. The method extends to situations representable by ‘tree diagrams

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1981.tb00307.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

SUMMARYA number of standard and new statistics for measuring linkage disequilibrium are introduced applicable to any multilocus system. Included are the usual pairwise gametic disequilibrium function,D,the Lewontin disequilibrium index,DL, a Euclidean disequilibrium distance,DE, a hierarchy of stratified linkage disequilibrium functions (e.g. a pairwise disequilibrium value conditioned on the value of a third locus) and an averaged conditional disequilibrium expression,DW. Various global second order measures of disequilibrium are proposed partly based on contingency table statistics and weighted pairwise disequilibrium quantities. A non‐parametric (stochastic) comparison assessment for global linkage disequilibrium is also developed. These measures are compared and contrasted at the HLA‐A, B, C gene complex for a sample of 2000 haplotypes from a healthy Austrian population.Several results from applying these methods include: (1) Of the various pairwise disequilibrium measures examined,D, DEandDWcorrelated very closely with each other but differ fromDL.(2) The ‘third‐order interaction’ between two loci conditional on an allele (or group of alleles) at a third locus indicated that HLA‐AB maintains the classical disequilibrium pairings only for conditioning on CX(the blank allele at locus C), and they mostly disappear for conditioning on C1to C5. (3) Subpopulations involving C3or C4alleles exhibit the significant new combinations A33B17and A2B15. (4) The B, C loci have a higher total linkage disequilibrium than A, B and A, C; more than expected by mapping distance relationships. (5) The total linkage disequilibrium was significantly larger for conditioning on CXcompared to CX(non‐CX), but smaller for the population conditioned by {C3, C4}.A number of interpretations of the results with respect to heterogeneity classifications of populations

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1981.tb00308.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY