摘要:

SummaryHaemoglobin Bart's hydrops foetalis is prevalent in Thailand. A total of fifteen such cases were investigated. The parents were mostly Thais and Chinese. The gestation periods varied between 7 and 10 months. Thirteen were deadin uteroand the other two died within 15 min. of delivery. Ten were female and five were male. All were anaemic and oedematous with enlarged and friable placentae, and had massive hepatomegaly. The average values of haematological findings are: haemoglobin concentration, 6.77 g. %; red‐cell count, 2.93 millions/mm.3; packed red‐cell volume, 40.5%; mean corpuscular volume, 140.6 micra3; mean corpuscular haemoglobin, 24.8μμg.; mean corpuscular haemoglobin concentration, 18%. Blood smears showed hypochromia, microcytosis, macrocytosis, target cells, anisocytosis, poikilocytosis, and numerous nucleated red cells. Intraerythrocytic inclusion bodies were found in a few red cells in most cases. Sickling was positive in five out of eight cases. In every case haemoglobin Bart's comprised almost all of the haemoglobin, only trace amounts of haemoglobins A+F being present. A small amount of haemoglobin H was detectable by starch gel in three cases. Average alkali‐resistant haemoglobin wa

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1967.tb00031.x

出版商:Blackwell Publishing Ltd    

年代:1967

数据来源: WILEY

摘要:

SummaryA sex‐chromatin‐positive female with secondary amenorrhea and minimal stigmata of gonadal dysgenesis is described. This diagnosis was confirmed by the observation of ‘streak gonads’ at laparotomy and histologic interpretation of rudimentary ovarian development. Cells cultured from peripheral blood, skin and gonadal tissues for cytogenetic evaluation exhibited an abnormal karyotype. The modal number was 46; however, only five normal chromosomes were found in group D (13–15). An abnormal submetacentric chromosome was also present. Morphologic, measurement and autoradiographic data suggest that the ‘marker’ chromosome represents a pericentric inversion of the sixth D

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1967.tb00032.x

出版商:Blackwell Publishing Ltd    

年代:1967

数据来源: WILEY

摘要:

SummaryAutoradiographic investigations of nine individuals from six different 13–15/21 translocation families revealed that in five of the families a 14/21 translocation occurred, while the translocation in one family was probably of 15/21 type. As the family with the 15/21 translocation was too small, it was impossible to compare the segregation rates in the two translocation type

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1967.tb00033.x

出版商:Blackwell Publishing Ltd    

年代:1967

数据来源: WILEY

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1967.tb00034.x

出版商:Blackwell Publishing Ltd    

年代:1967

数据来源: WILEY

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1967.tb00035.x

出版商:Blackwell Publishing Ltd    

年代:1967

数据来源: WILEY

摘要:

SummaryTwo families with erythrocyte phosphogluconate dehydrogenase (PGD) deficiency were studied.In one family the deficiency was partial, and affected individuals had about half the usual levels of enzyme in both red and white cells. The deficiency appeared to be determined by a structural genePGDO, allelic with otherPGDgenes known to determine electrophoretic character. The evidence suggests that, if indeed thePGDOallele does give rise to the formation of a subunit, this subunit is incapable of combining with other subunits to produce the dimeric PGD enzyme.

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1967.tb00036.x

出版商:Blackwell Publishing Ltd    

年代:1967

数据来源: WILEY

摘要:

SummaryErythrocyte 6‐phosphogluconate dehydrogenase (6‐PGD) from 2603 individuals was observed on starch gel following electrophoresis and several genetic variants are described. Among them is a new variant (the Friendship variant) detectable only in the absence of NADP from the gel and presenting a triple pattern for erythrocyte enzyme but only a single band for leucocyte or fibroblast enzyme. Family studies indicate that all the variants are due to autosomal co‐dominant alleles, and the population data suggest that the gene frequencies for the common alleles,PGDAandPGDC, are different between Negroes and w

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1967.tb00037.x

出版商:Blackwell Publishing Ltd    

年代:1967

数据来源: WILEY

摘要:

SummaryThe genetic linkage between elliptocytosis and rhesus factors was investigated in six Dutch families with a total of 146 elliptocytotic patients. Accepting the data in the literature on the frequency of recombination of genes in the case of close linkage as a starting‐point, we were able to rule out genetic linkage between elliptocytosis and rhesus factors in three of the families studied (families de M., v. B. and Ri.). In the fourth family, only one information was obtained, which suggested linkage to be improbable (family Mo.). The fifth family (family v. Ac.) yielded no information at all, so that linkage to the rhesus locus could not be ruled out. The study of the sixth family demonstrated close genetic linkage between elliptocytosis and rhesus factors (P10‐

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1967.tb00038.x

出版商:Blackwell Publishing Ltd    

年代:1967

数据来源: WILEY

摘要:

SummaryCorrelations between sibs and between parent and offspring are considered for autosomal and sex‐linked polymorphisms at loci which affect fitness, and at loci where dominant genes lower fitness. The practical implications of natural selection on estimation of such correlations are discussed, with reference to the mode of action of selection. It is shown that, where fitness is affected by a sex‐linked locus, parenkoffspring correlations in fitness can ex

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1967.tb00039.x

出版商:Blackwell Publishing Ltd    

年代:1967

数据来源: WILEY

摘要:

Summary1. The red cell acid phosphatase types A, BA, B, CA and CB have been compared with respect to a number of different properties.2. Types CA and CB have been found to be relatively much more thermostable than types B, BA and A. In the latter group, type B appears to show slightly greater thermostability than type A and type BA appears to be intermediate in this respect.3. No significant differences between the types were found in denaturation by guanidine or urea.4. Phosphotransferase activity determined with PNPP as substrate and methanol as acceptor, and expressed as percentage of hydrolytic activity in the absence of the alcohol, appeared to be much the same in the different types. A similar result was obtained when glycerol, propanol and ethanol were used as acceptors. The greatest phosphotransferase activities (more than three times the hydrolytic activities) were observed with glycerol and methanol in concentrations of 20–26%.5. No marked differences between the types in the pattern of substrate specificity were detected.6. Considerable retardation of red cell acid phosphatase in gel atration using Biogel P‐60 was observed. The elution peak emerged from the column subsequent to myoglobin and cyto‐chrome c markers. This suggests that the enzyme may have a relatively low molecular weight. Similar results were obtained with each

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1967.tb00040.x

出版商:Blackwell Publishing Ltd    

年代:1967

数据来源: WILEY