摘要:

The polymorphism of the blood clotting factor F13A was examined in some of our Danish material of normal families. A total of four alleles were recognized, with allele frequencies as follows: F13A*1 =0.817, F13A*2 = 0.177, F13A*4 = 0.003 and a new allele F13A*5%0.003. The distribution of unrelated individuals did not deviate significantly from the Hardy‐Weinberg expectation. Linkage of F13A with HLA was confirmed (ẑ%5.18, θ=0.17 in males andẑ%0.14, θ=0.37 in females). The sequence of the three systems F13A, HLA and GLO was found to be F13A‐HLA‐GLO as judged from two families each with a recombinant within the HLA system

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb01077.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

We have used a common TaqI restriction fragment length polymorphism (RFLP) near the human apolipoprotein C‐II (apoC‐II) gene to study linkage with apolipoprotein E (apoE). The inheritance of the apoC‐II RFLP was followed in seven families that were segregating for apoE protein variants. No recombinants were observed in 20 informative meioses, giving an overall lod score of>4.0 at recombination fraction 0. We have also observed apparent linkage disequilibrium between apoE and the apoC‐II RFLP. Taken together these results demonstrate that these two apolipoprotein genes are closely linked and confirm that the gene for apoC‐II is on human chro

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb01078.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

As part of a study on causes of variation in birth weight, questionnaire data on parental measures were related to offspring birth weights recorded in the Medical Birth Registry of Norway. A genetic analysis of parent‐offspring covariances in birth weight indicated that about 60% of the variance in birth weight could be explained by effects of fetal genes, while no effects of maternal genes were detectable. Multiple regression analysis showed that height and weight of both parents and maternal smoking status were associated with variation in birth weight. Socioeconomic status, educational attainment and paternal smoking habit had no independent effects. The adult, parental variables could only explain 10% of the variation in mean offspring birth weigh

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb01079.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

Concanavalin A (con A) and lens culinaris agglutinin (LCA) microheterogeneity pattern of AFP (crossed affinity immunoelectrophoresis), alpha‐2‐macroglobulin and synaptic membrane protein D‐2 (rocket immunoelectrophoresis) and qualitative (polyacrylamide gel electrophoresis) and quantitative (enzyme kinetic reaction rate) acetylcholinesterase were analysed in 87 consequtive samples from normal pregnancies and 37 abnormal samples (fetal neural tube defect or abdominal wall defect).Very few false positive results were obtained in normal pregnancies with any of the tests. In all cases of neural tube defects the correct result was obtained with qualitative acetylcholinesterase analysis, whereas only 2/3 of the abdominal wall defects were correctly predicted. Testing with con A or LCA was less optimal in neural tube defects, whereas all abdominal wall defects could be predicted correctly. Acetylcholinesterase in the quantitative test and protein D‐2 did not decrease the rate of false results. Determination of the alpha‐2‐macroglobulin concentration performed well in the present study, but is not recommended because of the very high susceptibility to contamination of amniotic fluid with fetal or mat

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb01080.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

α‐L‐Iduronidase activity was assayed by incubation of a radiolabeled disaccharide, 0‐(α‐L‐idopyranosyluronic acid)‐(l → 3)‐2,5 anhydro‐D‐[I,3H]‐talitol 4‐sulfate (IdoA‐anT4S) derived from dermatan sulfate, with homogenates of leucocytes, cultured amniotic cells and skin fibroblasts from normal individuals and patients affected with an α‐L‐iduronidase‐deficiency disorder (mucopolysaccharidosis type I, MPS I), parents of such patients and patients affected with other mucopolysaccharidoses. The assay clearly distinguished affected homozygotes from normal controls, heterozygotes and other mucopolysaccharidosis types. Preliminary results show that fibroblast homogenates from patients with the MPS I Hurler phenotype were virtually unable to hydrolyse IdoA‐anT4S, whereas fibroblast homogenates from a patient with a relatively mild (Scheie) phenotype exhibited a residual activity with Vmaxvalue of 2.5 pmol/min/mg protein and an apparent Kmof 21 /anol/1 compared to a range of 1020–2105 pmol/min/mg for Vmaxand 12–35 /rniol/1 fo

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb01081.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

A survey of how frequent chromosome abnormalities are diagnosed in Denmark prenatally as well as postnatally compared with the expected incidence in an 11‐year period 1970–1980 has been made from the Danish Cytogenetic Central Register.Ten percent of the expected number of Klinefelter's syndrome, 41% of Turner's syndrome and 10% of other sex chromosome abnormalities in children born between 1970 and 1980 have been diagnosed until January 1, 1983.The total frequency of diagnosed cases with sex chromosome abnormalities is 13% of the expected number. Induced abortion was made in 62% of the cases with sex chromosome abnormalities diagnosed prenatally.Ninety percent of all cases with Down's syndrome were diagnosed by chromosome examination, and 10% were diagnosed prenatally and aborted. During the last part of the period from 1977–1980 this had increased to 20%. Thirty‐seven percent of cases with other chromosome abnormalities were diagnosed.Among the expected 4,396 children with chromosome abnormalities to be born between 1970 and 1980, a total of 39% were diagnosed postnatally until January 1, 1983, and 10% were diagnosed prenatally.It is concluded that there is a great need for training consultants in clinical genetics, expansion and further decentralization of cytogenetic service with more cytogenetic laboratories and employment of clinical geneticists in all 14 Danish c

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb01082.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

ATPase activity of erythrocyte membranes was determined in 25 cases of Down's syndrome verified by cytological and psychological examinations. The age range of the patients was 8–25 years; 16 males and 9 females. Thirty healthy male volunteers were selected as the control group. There was a marked reduction of total ATPase, Na+, K+‐ATPase, Mg ++ ‐ATPase activities and rate of ouabain inhibition in the patients with Down's syndrome. The authors suggest that there might exist transport defects in the red cell membranes in such pat

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb01083.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

The clinical and cytogenetic data from a 26‐year‐old female with del(X)(q24 → ter) are reported. This breakpoint has not been described yet. Besides this report we give a comparative summary of 24 cases from the literature with different deletions

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb01084.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

We report on 6 patients out of a group of 86 albinos, with an additional eye defect: an anterior chamber cleavage disorder, i.e. a frequency of 7%. Given this high percentage of the coexistence of these two, we believe that this is not a coincidence.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb01085.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

Two fragile X chromosomes were found in 20% of the cells in a moderately mentally retarded patient with Klinefelter syndrome.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb01086.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY