摘要:

SummaryBinding of125I‐iodohydroxybenzylpindolol toβ‐adrenoceptors has been examined in lymphoblastoid cell lines from members of 5 families affected by manic‐depressive disorder. Cell lines from 6 manic‐depressives, 7 unaffected relatives and 11 non‐psychiatric controls were examined. Binding was reduced to less than half of control values in cell lines from 4 out of 6 manic‐depressives and only 1 out of 18 unaffected relatives or controls. All the cell lines with reducedβ‐adrenoceptor binding came from 3 families; members of the remaining 2 families showed normal binding. These findings suggest that genetic heterogeneity is present in manic‐depressive disorder and that aβ‐adrenoceptor defect may influence genetic susceptibi

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1984.tb01016.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

SummaryPrevious studies using the lectin RCA‐I fromRicinus communishave indicated that several lysosomal enzymes in the fibroblasts of patients deficient in β‐galactosidase carry excess terminal galactose. Electrophoretic studies have shown that the same enzymes and the non‐lysosomal adenosine deaminase also show excess terminal sialic acid in patients deficient in sialidase. In this paper we confirm, using Jack‐beanβ‐galactosidase, that the binding to RCA‐I of the purifiedN‐acetyl‐β‐d‐hexosaminidase from a patient with Gm1gangliosidosis depends on a terminalβ‐linked galactose. We provide evidence, using bacterial sialidase and measuring the binding to RCA‐I, for excess subterminal galactose on the enzymes of patients deficient in sialidase. We also show that adenosine deaminase from the fibroblasts of patients deficient inβ‐galactosidase has increased binding to RCA‐I. These observations suggest that in healthy individuals the carbohydrate structure of the precursors of lysosomal enzymes and possibly some other glycoproteins also includes extended carbohydrate side chains with terminal sialic acid and subterminal galactose, and that the mature enzyme extracted from tissu

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1984.tb01017.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

SummaryAn apparent discrepancy in phenotyping the genetic polymorphism at the FXIII B locus by electrophoresis or isoelectric focusing has been investigated. The data indicate that the product of the type 2 allele, which can be detected by agarose electrophoresis, is not resolved from the product of the type 1 allele by isoelectric focusing. The understanding of this problem has previously been confused by the absence or very low frequency of the type 2 allele in Japanese populations studied by isoelectric focusing and electrophoresis.An alternative enzyme‐linked immunoblotting technique is described which substantially improves the method for phenotyping products of the FXIII B locus after electrophoresi

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1984.tb01018.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

SummaryThe rare blood group phenotype lacking Lutheran antigens, Lu(a–b–), is known to have two genetic backgrounds. Tests on 250000 blood donors show the frequency of Lu(a–b–) to be approximately 1 in 3000. The families of 41 propositi show the dominant inhibitor of Lutheran antigens,In(Lu), to be the usual cause of the phenotype in South East England; there was no proven case of the recessive background,LuLu. Lod scores forIn(Lu) and other blood group loci are presented; the only hint of linkage is betweenIn(Lu) andRh. The suppressing effect ofIn(Lu) on the expression of antigens of unrelated blood group systems, P1, Auaand i, is co

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1984.tb01019.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

SummarySegregation data onLWin families of informative males show that theLW(Landsteiner‐Wiener) blood group locus is closely linked to the complementC3locus and to the locus for the Lutheran blood group. This finding also confirms the presence of a larger linkage group on chromosome 19, including now the loci for apoE, Le, C3, LW, Lu, Se, H, PEPD, myotonic dystrophy (DM), neurofibromatosis (NF) and familial hypercholesterolemia (FHC). Linkage ofLWwith theLewisblood group locus could not be definitely established by the present family data, but small positive scores betweenLWandLesuggest that theLelocus is situated outside theC3‐LWreg

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1984.tb01020.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

SummaryThe genetic map of chromosome 1 reported by Keats, Morton&Rao (1981) has been updated using recent recombination data and regional assignments from the Galton Laboratory (King, 1982a) and from the current literature. A maximum likelihood mapping technique using pairwise recombination data without a chiasma map was developed, based on the principles of Raoet al. (1979) and Keatset al. (1981). The development of this new method was found to be necessary when inconsistencies were encountered using a method which combines recombination data and physical data through the chiasma map. These inconsistencies could be due to appreciable chiasma movement, incorrect physical assignments or technical and biological variation in lod scores.

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1984.tb01021.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

SummaryThe structure of the Y chromosome and the relationship between the human sex chromosomes have been studied using Y‐derived sequences cloned in cosmids. Two probes recognize different unique sequences which map to the heterochromatic part of the long arm of the Y chromosome. A third sequence is shared by the long arm of the X chromosome and the euchromatic part of the Y chromosome. Thus homology between the sex chromosomes occurs outside the pairing regio

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1984.tb01022.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

SummaryAnthropometric measurements of four 46, XX males are compared with those of their first degree male relatives, control males, and a sample of 47, XXY males. Most dimensions of 46, XX males are smaller than those of normal males. 46, XX males are also shorter and smaller than 47, XXY males.The present results support the earlier suggestion that there is a gene(s) in the Y chromosome with a general size‐increasing effect and that the Y chromosome has an active role in the development of sex dimorphism in many body dimensions. These four 46, XX males may possess the Y chromosomal gene which sets the later timing of development in male

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1984.tb01023.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

SummaryHaplotypes have been determined for alleles at two separate polymorphic sites within the human structural gene for complement component 3, identified as a protein polymorphism and as a restriction fragment length polymorphism by hybridization using a cloned gene probe. No evidence was found for appreciable disequilibrium between alleles at these sites, despite their very close linkage.

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1984.tb01024.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

SummarySeveral deleterious and lethal autosomal recessive genes appear to exist in equilibrium with their normal alleles at a variety of stable, or near stable frequencies of considerable antiquity. One person in 25 is, for instance, a carrier of the Tay‐Sachs gene among Ashkenazi Jews, compared with 1 in 300 among Sephardic and Oriental Jews and non‐Jews. The explanations offered for t his phenomenon have generally not been entirely satisfactory.It has been shown that parents replace fortuitous infant and childhood deaths with, on average, approximately two surviving sibs each. When mutation rates are low, this practice, which has also been shown to occur among other animals, can maintain considerable variations in the stable incidence of autosomal recessive disease, should such ethnic polymorphism arise through genetic drift, the founder effect or hitch‐hiking. High mutation rates would appear to preclude ethnic variations in the stable incidence of genetic di

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1984.tb01025.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY