摘要:

SUMMARYSix new variants of human erythrocyte G6PD have been characterized. All of them were found in Italian males and all were associated with enzyme deficiency, but only two with signs of haemolysis. These and other variants reported in the literature, which must thus far be regarded as sporadic, are found to map in parts of Italy where common types of G6PD deficiency are also prevalent.

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1981.tb00310.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

SUMMARYComplementation analysis by somatic cell hybridization to produce heterokaryons has shown that at least three complementation groups exist within the disorders in which the enzyme sialidase is deficient. We have confirmed these results by electrophoretic analysis of two glycoprotein enzymes, adenosine deaminase and acid phosphatase, which show aberrant electrophoretic mobilities in these disorders. These abnormal forms, which have excess sialic acid bound, disappear on complementation and are replaced by normal mobility components. It is suggested that the sialidase produced on complementation uses the abnormal forms as natural substrates and that they may represent normal intermediates in the processing of glycoprotein enzymes.

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1981.tb00311.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

SUMMARYMcArdle'@ disease is due to the lack of activity of muscle glycogen phosphorylase. We investigated the presence of an inactive protein by two techniques:(a) tridimensional protein maps, using a modification of the originalO'Farrell technique allowing location of phosphorylase.(b) Purification of enzyme from crude muscle extracts, using an immunoaffinity micro‐chromatographic procedure.Protein maps of three patients were obtained. No protein was detected at the normal (97 K) position of phosphorylase but 70 and 60 K spots were visible. Results of enzyme purification by immunoaffinity were negative for one patient, whereas a small band of phosphorylase‐like material was detected in the other. Our results confirm the molecular heterogeneity of the disease.We think such methods might be useful for investigating other genetic disea

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1981.tb00312.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

SUMMARYPhosphoglycolate phosphatase (PGP) exhibits a wide range of activities in normal human red cells.Analysis of blood from 57 individuals of known PGP phenotype revealed no correlation between enzyme activity, electrophoretic phenotype or 2,3‐DPG concentration. Neither was there evidence of variation inKm, heat stability, pH optimum or molecular size among the various electrophoretic phenotypes. However, human red cell PGP exhibits high (0‐24 mM) and low (0‐05 mM)Kmvalues for phosphoglycolate irrespective of phenotype and this requires further ana

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1981.tb00313.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

SUMMARYAn isoelectric focusing method for human GDH is described which reveals seven GDH phenotypes. Family studies demonstrate that the variation is genetically determined by three alleles at an autosomal locus with gene frequenciesGDH1=0723,GDH2=0‐194,GDH3=0083. Linkage analysis shows thatGDHmay be closely linked toPGDon chromosome

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1981.tb00314.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

SUMMARY1. The localization of the β globin genes byin situhybridization to fixed chromosomes is described.2. The probe used was a [3H]cRN A copy of a genomic clone containing in total 4‐4 kb of DNA and including the β globin gene.3. The evidence for the localization of the gene comes from three pieces of data, (a) Chromosome 11 is labelled to double the extent expected if the grains were randomly distributed, (b) the extra grains above background are clustered on the short arm of 11 close to the centromere, and (c) the absolute number of grains observed is very close to that predicted for a probe of that length by comparison with ribosomal genes. The localization is in agreement with that obtained by other methods.4. This method could be extended to any gene for which a genomic clone containing at least 5 kb of single copy DNA is availa

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1981.tb00315.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

SUMMARYIn this study linkage between the loci forGm(γ‐type heavy‐chain immunoglobulin markers) andPi(α1‐antitrypsin/α1‐protease inhibitor) has been shown in families segregating for the Pi M subtypes (Ml, M2, M3 and Msal) as identified by separator isoelectric focusing. The estimate for theGm‐Pi(M‐type) recombination is 0‐29 (95% limits 0‐24‐O37) at a peak lod score of 4‐31 and with no sex difference. This value is not significantly different from updated recombination frequency estimates forGm‐Piin Pi MS (0‐26) and Pi MZ, SZ and FZ families (0 21). The overallGm‐Pirecombination fraction estimate of 0 26 (95 % limits O23‐0‐30) at a peak lod score of 20‐75 must now be considered as solid. There is a significant heterogeneity within the male Pi MZ families in that the new Finnish families show a higher recombination betweenGmandPi.There is also a possible segregation distortion(Z:M= 23:8). The heterogeneity is discussed in terms of haplotypes, the behaviour of which could be determined by linked genes or chromosomal rearrangements. The possibility that the α1‐antitrypsin level influences recombination frequency has not been ruled out, but cannot explain th

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1981.tb00316.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

SUMMARYInformation provided by the follow‐up of a family in which Anderson‐Fabry disease segregates, together with a family reported by Roperset al.(1977), negates the previous evidence of a probable linkage between αGALAa

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1981.tb00317.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

SUMMARYTwo families are described in which there is an inv(X) (p22ql3) which has been transmitted for three generations. In one family (K482), no recombinants have been recovered and the inversion can be traced to a female born in 1839. In the second family (K491), a recombinant (X), dup q, has been recovered in a normal fertile woman. In both families the inverted X appears to be carrying theXgallele. Despite extensive family studies no common ancestor has been found for the two families.The pattern of DNA synthesis has been studied in those individuals who are karyotypically 46, X, inv(X) (p22ql3) and 46, X, rec(X)dup q, inv(X) (p22ql3); the selection of the abnormal as the late synthesizing X chromosome is random in the former and total in the latter. In some cells the two long arms of the recombinant X chromosome showed asynchrony of DNA replication.

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1981.tb00318.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

SUMMARYHuman lymphoblastoid cell lines evolvein vitroby the emergence of successive waves of clones which are often chromosomally marked. This offers the opportunity to compare tissue samples of the same genetic origin but differing in certain defined parts of the karyotype.Using selected sets of lines in which the members of genetically matched pairs differed in the number of copies of 8p or of 12p, levels of GSR and LDH B respectively have been shown to correlate with the specific chromosome aberrations, supporting existing data on the regional assignment of these two structural loci.This approach represents a useful addition to established methods for human gene mapping.

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1981.tb00319.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY