摘要:

SUMMARYThe electrophoretic patterns of human red cell phosphoglucomutase (PGM) were determined by standard starch‐gel electrophoresis on two aliquots of haemolysate, one of which was previously heat‐treated. Samples from 67 families and 417 unrelated healthy subjects were examined. Heat denaturation studies combined with electrophoresis showed a greater heterogeneity of phosphoglucomutase‐1 (PGM1) isozymes than that revealed by electrophoresis alone. Both the PGM} and the PGM? isozymes turned out to be either heat‐resistant (tr) or heat‐sensitive (ts) and this new phenotypic property segregated along with the electrophoretic allele with which it was originally associated. Comparison of red cell PGM1patterns of 217 PGM12‐l heterozygous individuals, analysed both as described in this paper and by acid starch‐gel electrophoresis, which also distinguishes two commonPGM11(PGM11SandPGM11F) and two commonPGM12(PGM12SandPGM12F) allelic products, has shown that the two sets of four alleles do not coincide. Thus eight differentPGM1alleles were identified. ThePGM11Str,PGM11Sts, PGM11Ftr,PGM11Fts,PGM12Str, PGM12StsandPGM12Ftsgene frequencies were estimated as 0523,0–066,0099, 0–029, 0–224, 0–012, 0–043, 0–004, respectively.Three polymorphic sites are hypothesized within thePGM1structural gene and the observed frequencies of the eight alleles discussed in terms of ‘disequilibrium’ among these sites.This is the second example of a human enzyme isoelectrophoretic polymorphism revealed by research specifically aimed at detecting electrophoretically cryptic genetic variations. The technique used in this study appears to offer a reliable means of detecting isoelectrophoretic variants for proteins already known to be el

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1981.tb00344.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

SUMMARYDanish family material comprising 1664 unrelated individuals (parents) and 3169 children, as well as 699 grandparents of the same families, were examined for paraoxonase activity. A micro‐autoanalyser method, comprising a primary testing in tris buffer at pH 7‐5 and, in the case of primarily intermediate individuals, a secondary testing at pH 10, was applied. This gave a better discrimination than testing only at pH 7.5, because individuals around the low mode of the primary activity distribution had their pH optimum at pH 10, while the optimum of individuals around the high was at pH 8.5. By this combined testing all individuals could be unequivocally classified as ‘low’ or ‘high’, and the family material was compatible with the low phenotype representing homozygosity for an autosomal recessive gene with a frequency Plow= 0–726. Out of 5532 individuals, 5 showed an almost complete lack of paraoxo

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1981.tb00345.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

SUMMARYThe human immunoglobulin heavy chain gene complex has been assigned to chromosome 14 by filter hybridization of restriction digests of mouse‐human somatic cell hybrids. Cloned DNA probes for both variable and constant regions were use

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1981.tb00346.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

SUMMARYA boy with a duplication of the region lp31.4 → 1p22.1 has the PGM1phenotype 2+2

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1981.tb00347.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

SUMMARYNineteen enzymes showing highest activity in liver were examined in human and rodent tissues and cultured cells using starch‐gel electophoresis. The rat hepatoma line Faza 967 strongly expressed 13 of these enzymes. A series of somatic cell hybrids, constructed between Faza and cells of non‐hepatic origin derived from man or from Chinese hamster, were examined for expression of these enzymes. Some of the human/rat hybrids continued to produce rat liver specific enzymes, and the human forms of the enzymes glutamate‐pyruvate transaminase, a‐glycerophosphate dehydrogenase, alcohol dehydrogenase and pyruvate kinase L were re‐expressed in a

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1981.tb00348.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

SUMMARYThe origin of the additional chromosome was studied in 45 trisomic‐21 Down‐syndrome patients. In 17 patients the additional chromosome was maternal, in 2 it was paternal and in the remaining 26 the parental origin could not be determined. Acrocentric chromosome association was studied in parents of Down‐syndrome offspring and in parents of spontaneous abortions that were trisomic for an acrocentric chromosome. Parents of trisomic 16 abortuses and parents of triploid and chromosomally normal abortuses were used as controls. No increased association index was found for the specific acrocentric chromosome involved in the trisomy, either for the liveborn or for the aborted trisomies. However, the overall association index of the parent in whom the non‐disjunctional event leading to the acrocentric trisomy occurred was increased by comparison with that of the parent in whom non‐disjunction did not occur and with that of the controls. The reasons why we consider satellite associations to play an insignificant role in the aetiology of non‐disjunction ar

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1981.tb00349.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

SUMMARYGiven sets of measurements on a pair of homologous chromosomes from an individual and both his/her parents, methods for estimating the probability that the individual has inherited any particular two of the four parental homologues are discussed and compared. A new method with several desirable properties is proposed.

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1981.tb00350.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

SUMMARYAccurate quantitative assessment of risk in Huntington's chorea necessitates unbiased estimation of the distribution of age at onset. Previous studies have quoted the mean observed age at onset but this is biased, containing no contribution from heterozygotes who have not manifested the disorder by the study date. An iterative weighted life‐table approach is developed, which takes due account of such censored heterozygotes; it demonstrates a considerably older median age at onset than has hitherto been reporte

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1981.tb00351.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

SUMMARYLife table techniques permit a more appropriate assessment of the effect of such factors as sex, line of transmission, birth cohort and kindred upon the age at onset and the duration of survival subsequent to onset in Huntington's chorea.

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1981.tb00352.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.tb00353.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY